My favorite public health and health care books of 2021

My final post of 2021 is the 6th in an annual series listing my 10 favorite public health and health care reads of the past year, in addition to four books with health-related themes included in my favorite biographies and memoirs of 2021. Happy holidays and best wishes for a healthy 2022!

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1. The Blood of Strangers: Stories from Emergency Medicine, by Frank Huyler

2. A Cancer in the Family: Take Control of Your Genetic Inheritance, by Theodora Ross

3. A Country Doctor Writes: Conditions: Diseases and Other Life Circumstances, by Hans Duvefelt

4. The Kissing Bug: A True Story of a Family, an Insect, and a Nation's Neglect of a Deadly Disease, by Daisy Hernandez

5. Mr. Humble and Dr. Butcher: A Monkey's Head, the Pope's Neuroscientist, and the Quest to Transplant the Soul, by Brandy Schillace

6. Overkill: When Modern Medicine Goes Too Far, by Paul Offit

7. Preventing the Next Pandemic: Vaccine Diplomacy in a Time of Anti-Science, by Peter Hotez

8. A Shot to Save the World: the Inside Story of the Life-or-Death Race for a Covid-19 Vaccine, by Gregory Zuckerman

9. The Ten Year War: Obamacare and the Unfinished Crusade for Universal Coverage, by Jonathan Cohn

10. Uncontrolled Spread: Why Covid-19 Crushed Us and How We Can Defeat the Next Pandemic, by Scott Gottlieb

My favorite biographies and memoirs of 2021

I read so many great biographies and memoirs this year that I decided to create a separate top ten list for this type of book. Four are memoirs of physicians and a bioethicist; one is the biography of a Nobel Prize winner in chemistry; and the rest document the lives of astronauts, sports legends, and a former Secretary of State. As with my annual list of favorite public health and health care books (coming soon!), this list is ordered alphabetically and includes a few that were published before 2021.

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1. All In: An Autobiography, by Billie Jean King

2. The Burning Blue: The Untold Story of Christa McAuliffe and NASA's Challenger Disaster, by Kevin Cook

3. Canary in the Coal Mine, by William Cooke

4. The Code Breaker: Jennifer Doudna, Gene Editing, and the Future of the Human Race, by Walter Isaacson

5. Endurance: My Year in Space, A Lifetime of Discovery, by Scott Kelly

6. I Came As A Shadow: An Autobiography, by John Thompson

7. In Pain: A Bioethicist's Personal Struggle with Opioids, by Travis Rieder

8. Lifelines: A Doctor's Journey in the Fight for Public Health, by Leana Wen

9. The Man Who Ran Washington: The Life and Times of James A. Baker III, by Peter Baker and Susan Glasser

10. Pilgrimage: A Doctor's Healing Journey, by Donna Chacko

Dietary and nutrition guidance for the holidays and beyond

As the days get shorter and people look forward to holiday celebrations, three recent dietary and nutrition guidelines provide practical advice for patients, physicians, and food vendors.

The 2020-2025 Dietary Guidelines for Americans are the latest iteration of a scientific collaboration between the U.S. Departments of Agriculture (USDA) and Health and Human Services dating back to 1980. The current report provides guidance for healthy eating across a person's lifespan, emphasizing dietary patterns with nutrient-dense foods and beverages:

At least one-half of food eaten should be fruits and vegetables, especially whole fruits and vegetables of a variety of colors. The core elements of the other half of food that should be eaten include grains, dairy, protein, and oils with lower saturated fat. At least one-half of grain servings should be whole grains. Minimize alcohol use and consumption of foods with added sugar, saturated fat, and sodium.

In an American Family Physician editorial, Drs. Amy Locke and Rachel Goossen from the University of Utah observed that "although many of the recommendations are widely accepted, ... criticisms revolve around the authors' reported financial ties to the food industry and the discrepancies between the published guidelines and the recommendations submitted to the authors by the scientific advisory committee." Examples of such discrepancies include the Dietary Guidelines' overemphasis on consuming dairy and animal-based proteins and insufficient limits on alcohol use. Drs. Locke and Goossen suggested that "the most accessible way to use the information included in the report is through the USDA's MyPlate website and app" that organize advice by food groups and subgroups.

Recognizing that nearly 9 in 10 adults consume more sodium than the National Academy of Medicine's Chronic Disease Risk Reduction (CDRR) intake of 2,300 mg/day, the U.S. Food and Drug Administration finalized voluntary guidance for industry that aims to reduce the average American's daily sodium intake by 12% (from 3,400 to 3,000 mg/day) over the next two and a half years. Industry cooperation is critical because more than 70% of sodium intake comes from packaged food and food prepared away from home. Whether these goals will be achieved in the absence of an enforcement mechanism is unclear, as the sodium content of popular commercially processed and restaurant foods has changed little over the past decade.

Finally, the U.S. Preventive Services Task Force reiterated its 2014 recommendation that found insufficient evidence to assess the benefits and harms of screening for vitamin D deficiency in asymptomatic adults. In a Putting Prevention into Practice case study in AFP, Drs. Howard Tracer and Robert West noted that due to individual variability, "no one serum vitamin D level cutoff point defines deficiency, and no consensus exists regarding the precise serum levels of vitamin D that represent optimal health or sufficiency." In a previous editorial, I observed that frequent measurement of vitamin D levels in clinical practice is inconsistent with the evidence. As for supplementation, "family physicians should also counsel patients on the recommended dietary allowance for vitamin D (600 IU per day in adults 70 years and younger, and 800 IU per day in adults older than 70 years), and discourage most patients from using supplements, especially in dosages near or above the tolerable upper limit of 4,000 IU per day."

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This post first appeared on the AFP Community Blog.

Breaking the chain of transmission through vaccination

Like any other human vaccine, coronavirus vaccines aren't only meant to protect individuals from developing symptomatic COVID-19, but to break chains of transmission throughout the population, insulating vulnerable people through multiple layers of protection. Let me explain how this works. Say that the older of two unvaccinated child siblings, E.L., is exposed to a classmate with COVID-19 in the school cafeteria. What's the chance that she brings the infection home to her younger sibling, G.L., and what's the chance that younger sibling inadvertently gives the infection to Grandpa when he visits? Grandpa is vaccinated and boosted, of course, but since he has cancer and is immune compromised, he is only 60 percent less likely to catch the virus than an unvaccinated person. Let's say that due to the vagaries of distance and air circulation, the unvaccinated older sibling has a 50 percent chance of developing COVID-19 from her school exposure. Since she shares a bed with her younger sibling and doesn't go into quarantine until she has been infectious for two days, let's say that there is an 80 percent chance that if infected, she infects her sister also. This then becomes a straightforward math problem.

Probability E.L. catches COVID-19 from classmate: 0.50

Probability G.L. catches COVID-19 from E.L: 0.50 X 0.80 = 0.40

Probability Grandpa catches COVID-19 from G.L.: 0.40 X (1 - 0.60) = 0.16

So, there is about a 1 in 6 chance of an intact chain of transmission from E.L.'s classmate to E.L.'s Grandpa, via G.L. Not tremendously high, but outcomes with 1 in 6 odds happen all the time, as any sports fan can attest, and given the high risk of severe illness in immune compromised adults over age 65, most people would probably call this an unacceptable risk for Grandpa.

What if E.L. and G.L. were both fully vaccinated, though? The Pfizer-BioNTech vaccine had a reported efficacy of 90.7 percent against symptomatic disease in a randomized clinical trial of 5 to 11 year-old children; efficacy against asymptomatic transmission is uncertain, but for the sake of this scenario I will assume it's 80 percent. Let's run these calculations again, with the vaccine actions in bold.

Probability E.L. catches COVID-19 from classmate: 0.50 X (1 - 0.80)

Probability G.L. catches COVID-19 from E.L: 0.10 X 0.80 X (1 - 0.80) = 0.016

Probability Grandpa catches COVID-19 from G.L.: 0.016 X (1 - 0.60) = 0.0064

In this scenario, there is about a 1 in 156 chance of an intact chain of transmission from E.L.'s classmate to E.L.'s Grandpa, via G.L. 1 in 156 is better odds than winning the big prize in the lottery, but most people would feel pretty comfortable that an event this unlikely would not happen on any given day.

In summary, people who suggest that once Grandpa (or Grandma, or Great-Aunt Amy or other older people who are important to you or somebody else) is vaccinated and boosted, it's a "personal choice" for them and their children to get vaccinated too, are demonstrating ignorance of math and public health. We will only get through this pandemic by breaking the transmission chain together, not with 1 in 5 American adults declining vaccinations for themselves and their children because they don't think they will get very sick or that their inaction could quite possibly lead to someone else's disability or death - maybe even someone they love. I wish that every person with access to vaccination would just do the right thing and mandates wouldn't be necessary, but the declaration "I'm pro-vaccine but anti-mandate" is a non sequitur. If you're really pro-vaccine, you want everyone to get vaccinated whether they like it or not, for the good of your community and country and the whole human race.

#ThisIsOurShot at Starbucks

As the Delta variant continues to cause severe COVID-19 infections in the 40% of the U.S. population that is not fully vaccinated (71% have received at least one dose), and the more contagious Omicron variant establishes a foothold heading into winter, physicians across America are volunteering their time to reach outside of their patient panels and have community conversations about the effectiveness and safety of the vaccines. I am pleased to partner with Starbucks for a listening and informational session next week at one of their stores in southeast DC. Come have a cup with me!

Race-based clinical prediction tools are ripe for reassessment

In June, Dr. Bonzo Reddick's editorial "Fallacies and Dangers of Practicing Race-Based Medicine" reviewed the limitations of several commonly used clinical prediction tools that employ race as a biologic variable rather than recognizing it as a social construct. For example, he pointed out that the American College of Cardiology / American Heart Association Pooled Cohort Equations (PCE) predict that "a 40-year-old White male smoker has a lower cardiovascular risk than a 40-year-old Black male nonsmoker," or put more bluntly, "being a Black man is more dangerous than smoking." Since then, researchers and policy makers have made considerable progress in addressing the inappropriate use of race in medical decision making.

A Curbside Consultation in the September issue of American Family Physician introduced a multiracial patient who is confused by the need to identify as African American, White, or Other so that his clinician can evaluate the appropriateness of statin therapy. If White, his estimated 10-year cardiovascular disease (CVD) risk would be 5.8%; if African American, it would be 17.7%. Similarly, a preprint study using thousands of hypothetical and actual patients concluded that large differences in PCE estimates in Black versus White persons with identical risk factor profiles would have the practical effect of "introduc[ing] race-related variations in clinical recommendations for CVD prevention." Until new cardiovascular risk prediction models are developed that omit race, Drs. Mara Gordon and Isha Marina Di Bartolo suggested that physicians exercise caution when using race as a marker of genetic ancestry; consider alternative approaches to risk stratification; and use social determinants of health as an alternative to demographics.

Turning from the heart to the kidneys, including race in the estimation of glomerular filtration rate (eGFR) has the effect of increasing a Black person's eGFR relative to a White person's with the same serum creatinine level. Consequently, Black patients with chronic kidney disease become eligible for kidney transplants nearly two years later than their White counterparts. Underlying this point, Glenda Roberts, a patient representative to a National Kidney Foundation and American Society of Nephrology Task Force that recommended implementing a refitted eGFR calculation that does not include race, observed in a recent opinion piece that though she self-identifies as Black, learning from a DNA analysis that her ancestry was only 48% African (making her, technically, White) would have gotten her on the transplant list sooner! The Chronic Kidney Disease Epidemiology Collaboration has published new eGFR equations that omit race and incorporate serum creatinine and cystatin C.

A 2007 calculator for predicting the likelihood of a successful vaginal birth after cesarean (VBAC) delivery that includes race-based correction factors for African American and Hispanic women was later challenged for promoting disparities in cesarean rates. Earlier this year, researchers from the National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network unveiled a new VBAC calculator without race variables that has excellent calibration and a similar area under the receiver operating characteristic curve as the previous calculator.

Further work remains to be done. The Agency for Healthcare Research and Quality (AHRQ) posted draft Key Questions for a future systematic evidence report on the impact of clinical algorithms on racial disparities in health and health care. Another AHRQ-funded methods report on racism and health inequities in clinical preventive services and guideline development supported the U.S. Preventive Services Task Force's proposed changes to its recommendation processes to mitigate the effects of systemic racism.

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This post first appeared on the AFP Community Blog.

Neonatal abstinence syndrome: another consequence of the opioid epidemic

The opioid epidemic has accelerated during the COVID-19 pandemic, with the Centers for Disease Control and Prevention estimating that more than 93,000 people died from opioid-related overdoses in 2020, a staggering 30 percent increase over 2019. As more pregnant patients have been using opioids, rates of neonatal abstinence syndrome (NAS) have also been on the rise, nearly doubling between 2010 and 2017. Family physicians who care for newborns will increasingly be called on to manage this syndrome. In an editorial in the September issue of American Family Physician, Drs. Roschanak Mossabeb and Kevin Sowti reviewed key points in treatment of NAS, including a low-stimulation environment, skin-to-skin contact, frequent breastfeeding, and opioid therapy when indicated. They emphasized that involving the newborn's mother in the care plan is essential to achieving the best outcomes:

Mothers should be viewed as medicine for their infants; by spending time together, infants will likely need less pharmacologic treatment, hence a shorter hospital stay and decreased hospital costs. In addition, strengthening the mother-infant bond may reduce postpartum depression and improve maternal stress response.

Unfortunately, for a variety of reasons mothers and newborns with NAS are often separated after being discharged home. A recent county-level analysis in Health Affairs found that national increases in NAS are associated with increases in placement of infants in foster care: "every one diagnosis ... per ten births was associated with a 41 percent higher rate of infant foster care entry." Infants residing in rural counties were more likely to be placed in foster care than those residing in urban counties.

A quality improvement collaborative in Colorado hospitals aimed to standardize care of opioid-exposed newborns by implementing the Eat, Sleep, Console model. Study results showed that while hospital length of stay and pharmacologic therapy use decreased for all mother-infant dyads during the study period, these positive effects were delayed in mothers who self-identified as being of Hispanic ethnicity. Racial differences in treatment and outcomes have also been observed in studies comparing Black and and White newborns with NAS. However, a critique of two of these studies cautioned physicians against conflating racial disparities with genetic differences in treatment requirements, noting that implicit bias is more likely to explain the disparities than biologically-based explanations.

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This post first appeared on the AFP Community Blog.

Virtual-first primary care: will the proof be in the pudding?

Six months ago, Dr. Elisabeth Rosenthal, editor-in-chief of Kaiser Health News and a former emergency medicine physician, wrote a commentary titled "Telemedicine Is a Tool - Not a Replacement for Your Doctor's Touch." She warned that since the expansion of telehealth driven by the exigencies of the COVID-19 pandemic had outstripped the evidence of its effectiveness and cost-effectiveness, "deploying it too widely risks poorer care, inequities and even more outrageous charges in a system already infamous for big bills." At that time, my office was transitioning back to seeing a majority of patients in person, a process that has continued to the point that virtual (video or audio-only) visits now make up only about 10-20% of my daily schedule. I have welcomed this return to normal. Like nearly all clinicians, I experienced my share of awkward telemedicine tales and never quite figured out how to virtually diagnose and manage conditions that require a hands-on physical examination, such as musculoskeletal issues. My telehealth experience also confirmed my prior suspicion that connecting with new patients via tablet or computer screen was more difficult than in the physical proximity of an examination room.

In contrast, some health care insurers and vendors are going all-in on virtual care, offering "virtual-first" plans with lower premiums that steer patients to primary care physicians whom they may never meet in person. Teladoc offers Primary360; Amwell has Virtual Primary Care; CareFirst is advertising CloseKnit; and United Healthcare is launching NavigateNOW. All of these services offer more scheduling flexibility than traditional practices, self-monitoring tools, and promise to refer patients for in person visits with primary care or specialist physicians if necessary. It seems that these plans are targeted at younger adults, who are less likely to have an established source of primary care and more likely to be comfortable having solely digital relationships with physicians. (A research letter published this week in Annals of Internal Medicine found that fewer than 1 in 4 U.S. adults over age 65 used telemedicine services in 2020.)

This phenomenon raises a number of questions. Who are these companies hiring to provide care? I periodically receive unsolicited e-mail requests to moonlight for commercial telehealth providers that tout flexible schedules and generous payment rates, but the idea of sitting in front of a screen any more than I already am makes it a nonstarter. I very much doubt there is an existing pool of doctors or nurse practitioners who have been doing nothing during the pandemic. And although some have suggested that practicing virtual medicine well requires specific training, core competencies and curricula remain to be developed. That means that there's no way to assure that present-day "medical virtualists" are actually well-qualified to practice in this challenging environment.

Drs. Kurt Herzer and Peter Pronovost have argued in a JAMA Viewpoint that like in-person care, it's important to demonstrate that virtual care is high-quality: that is, safe and effective, efficient and timely, patient centered and equitable. None of these are so clearly true that the research doesn't need to be done to find out. It's quite possible, in fact, that virtual-first primary care could lead to more incorrect diagnoses, unnecessary visits, and excessive testing, and worsen health disparities due to inequitable access. 

As a believer in the value of a longitudinal relationship with a primary care clinician, I think that if virtual-first plans end up creating such relationships where there wouldn't have been any, then they will likely improve health for some people. If, on the other hand, these plans lure large numbers of patients away from brick-and-mortar practices due to convenience, costs, or reduced choices (e.g., being the only type of plan offered by an employer), I forecast that accomplishing key primary care tasks such as care coordination will become even more difficult. In the past two decades, patients enrolled in fee-for-service Medicare saw more outpatient specialists without increasing their contacts with primary care physicians. It's hard to imagine that a virtual primary care doctor in California (or India or China, for that matter) is going to have more than a superficial knowledge of subspecialists, behavioral health, or health care resources available in Washington, DC. But like it or not, the future of primary care is coming, and time will tell if it makes things better or worse for us all.

Trust and relationships in primary care

The editor of the Annals of Family Medicine invited me to write an editorial connecting and reflecting on several articles in the journal's November/December 2021 issue. That editorial, "Trust and relationships remain at the heart of primary care," was published online today. I'm proud of what I wrote, and I hope that some of you will take the time to read it and let me know what you think.

Measuring and minimizing low-value health care

Hospitals and health systems have often needed to restrict nonemergent care during COVID-19 surges, with mixed effects on patients. Some patients may experience worse outcomes when necessary treatment or surgery is postponed, while others may avoid receiving unnecessary and potentially harmful (low-value) care. Of course, relying on a pandemic to reduce low-value care is not a strategy; at best, it's a blunt instrument that will be discarded when the public health emergency ends. Recent studies of pre-pandemic low-value care have further demonstrated the need for sustainable interventions.

Dr. Ishani Ganguli and colleagues described the use of 41 low-value medical services in a retrospective cohort of more than 11 million Medicare beneficiaries across 556 health systems. They found that the most common services were preoperative laboratory testing, prostate-specific antigen testing in men older than 70 years, and antipsychotic medications in patients with dementia. Characteristics of health systems associated with greater low-value care (based on a composite measure of the 28 most common services) were having a smaller proportion of primary care physicians, a larger proportion of patients of color, no teaching hospital, higher health care spending, and headquarters in the Southern or Western U.S.

Another recent study of Medicare claims data examined the prevalence and costs of hospital-acquired conditions and patient safety indicator events associated with a selection of low-value inpatient procedures. The investigators identified 231 hospital-acquired conditions and 1,764 patient safety indicator events associated with these procedures from 2016 to 2018, resulting in $3.16 million and $26.7 million in additional health care costs, respectively. For example, hospital-acquired conditions occurring during an admission for percutaneous coronary intervention extended length of stay by an average of 17.5 days and increased the cost of hospitalization by $22,000. Those are impressive amounts given that the procedure may have been unnecessary in the first place!

The Cochrane Library has created a special collection of systematic reviews on resource-intensive interventions "for which there is high or moderate certainty evidence that they confer clinically small or no effects, and for which there is some evidence of harm to patients." Examples include preoperative testing for cataract surgery, percutaneous vertebroplasty for vertebral compression fractures, and intensive follow-up strategies after treatment of non-metastatic colorectal cancer.

As Dr. Jennifer Middleton pointed out in a 2018 editorial, changing physician behavior to minimize low-value care requires creating new workflows and systems of care. A systematic review of 131 articles on Choosing Wisely interventions in the U.S. through June 2019 found that the most effective interventions target clinicians rather than patients, are active rather than passive, and include multiple components. The type of low-value service targeted did not affect outcomes. Components of effective clinician-focused interventions included behavioral nudges, feedback / report cards, clinical decision support, electronic health record enhancements, clinician champions, education and academic detailing, and creating new clinical pathways.

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This post first appeared on the AFP Community Blog.

The past, present and future of cancer screening

I've given a lecture in Georgetown University School of Medicine's Evidence-Based Medicine course on evaluating screening tests every fall for the past decade, and for several years prior to that I taught these principles to public health students at Johns Hopkins University. I link the origin of evidence-based assessment of clinical preventive services to the creation of the U.S. Preventive Services Task Force (USPSTF) in 1984, first under the aegis of the U.S. Public Health Service and later, the Agency for Healthcare Research and Quality. In doing so, I imply that prior to that date, screening in primary care was in the stone ages. As it turns out, that's not exactly true.

The recent digitization of archives of The Journal of Family Practice dating back to 1974 allowed me to discover a 4-part series of previously inaccessible papers by Drs. Paul Frame and Stephen Carlson titled "A Critical Review of Periodic Health Screening Using Specific Screening Criteria." These historical articles, published before I was born, analyzed screening tests for 36 selected diseases using criteria that would be familiar to anyone studying screening today:

1. The disease must have a significant effect on quality or quantity of life.

2. Acceptable methods of treatment must be available.

3. The disease must have an asymptomatic period during which detection and treatment significantly reduce morbidity and/or mortality.

4. Treatment in the asymptomatic phase must yield a therapeutic result superior to that obtained by delaying treatment until symptoms appear.

5. Tests must be available at reasonable cost to detect the condition in the asymptomatic period.

6. The incidence of the condition must be sufficient to justify the cost of screening.

Here are some of their recommendations for screening in adults that remain essentially unchanged half a century later: Take a smoking history. Measure height and weight. Check blood pressure every 2 years. Don't routinely do EKGs in asymptomatic people. Measure cholesterol levels. Don't screen for lung cancer with chest x-ray or sputum cytology (these days we screen high-risk persons with CT). Don't screen for brain tumors. Don't screen for COPD. Don't screen for cirrhosis (advanced liver disease). Don't screen for oral cancer, stomach cancer, or pancreatic cancer. Perform fecal occult blood testing to screen for colorectal cancer (this remains an option although many patients now choose screening colonoscopy). Don't screen for bacteriuria in nonpregnant patients. Screen for syphilis in at-risk persons. Don't screen for testicular cancer, bladder cancer, or kidney cancer. Do Pap smears for cervical cancer in women older than age 20 (today we may add or substitute HPV testing in certain patients). Don't screen for endometrial or ovarian cancer.

In terms of screening for cancer, there were only two substantial changes from these 1975 guidelines to today's accepted practices. For breast cancer, we now recommend biennial mammography for all women starting at age 50 (or age 40 if desired) and discourage routine breast self-examination, which Frame and Carlson endorsed due to it being a benign intervention - it hadn't yet been shown to be harmful in terms of increasing false positive results and biopsies. And while Frame and Carlson discouraged prostate cancer screening, the current USPSTF thinks that selective screening is acceptable in men age 55-69 years (although I disagree).

The fact is, though, most cancers aren't diagnosable or diagnosed through screening. A a recent National Academies workshop, Dr. Chyke Doubeni noted that less than half of all cancer deaths are potentially preventable through current screening techniques. Dr. Elizabeth Sarma's research showed that only one-third of estimated new cancer cases this year are potentially screen detectable. For example, data show that 67 to 82 percent of colorectal cancers are detected after patients present with symptoms, not due to an abnormal screening test result. This imbalance would improve a little if 100% of eligible adults got screened, but the fact is that current technology can't prevent every cancer, or even the majority of them.

That's a quick tour of the past and present. What about the future of cancer screening? There is a lot of optimism these days about multicancer early detection (MCED) tests, also called "liquid biopsies." Imagine this: your doctor would be able to take a single blood sample and test it for multiple cancers simultaneously, including cancers that currently have no effective standard screening test. That sounds great, but there are lots of potential pitfalls, including the inability of some tests to identify cancer tissue of origin (so you could get a result back that essentially says "You have cancer somewhere in your body, we just don't know where"). Lots of smart people, including yours truly, are trying to figure out the best way to evaluate the benefits and harms of MCED tests and to create regulatory frameworks for the companies that are developing them.

An update on multisystem inflammatory syndrome in children

In May 2020, I wrote a blog post that described an emerging COVID-19 associated, Kawasaki disease-like syndrome that became known as multisystem inflammatory syndrome in children (MIS-C). (The Centers for Disease Control and Prevention later identified a similar inflammatory syndrome in adults, MIS-A.) Over the past year, as family physicians, pediatricians, and children's hospitals have gained experience with treating patients with MIS-C, we now know more about differentiating it from Kawasaki disease and managing its major complications. A review article by Drs. John Darby and Jennifer Jackson in the September issue of American Family Physician provided an overview and comparison of Kawasaki disease and MIS-C. Although Kawasaki disease primarily occurs in toddlers, MIS-C has been observed in patients from one week to 20 years of age, with a median age of 7 to 9 years. In the U.S., Hispanic and non-Hispanic Black children have been disproportionately affected by MIS-C, comprising 62% of all cases. Vomiting, diarrhea, and abdominal pain occur in 80% of patients, while neurocognitive symptoms affect about 20%. Additional symptoms of MIS-C can include hypotension secondary to cardiac dysfunction and systemic vasodilation.

Two observational studies of patients with MIS-C published in June 2021 added to the knowledge base but did not definitively identify the most appropriate treatment. A propensity-score matched analysis of 518 patients admitted to U.S. hospitals for MIS-C between March 15 and October 31, 2020 found that initial treatment with intravenous immune globulin (IVIG) plus glucocorticoids, compared to IVIG alone, was associated with a reduced risk of new or persistent cardiovascular dysfunction (a composite outcome of left ventricular dysfunction or shock resulting in the use of vasopressors) on or after day 2 of admission. In contrast, an international cohort study of 614 children with suspected MIS-C from 32 countries treated from June 2020 through February 2021 found no differences in a composite outcome of inotropic support or mechanical ventilation by day 2 or later between children who received IVIG alone, IVIG plus glucocorticoids, or glucocorticoids alone.

A longitudinal cohort study of 50 patients admitted to a single U.S. medical center between April and June 2020 reported outcomes of MIS-C at 6 months. 31 patients required intensive care, and 33 developed left ventricular dysfunction, coronary dilation, or aneurysms. The mean length of stay was 5 days. After two weeks, only 9 patients had persistent ventricular dysfunction or other coronary abnormalities, though nearly half reported fatigue with ordinary activities. All 25 patients who presented for a 6-month follow-up visit were asymptomatic, with a single patient having left ventricular diastolic dysfunction. Although the rapid resolution of symptoms and cardiac abnormalities seen in this study is good news, it is unclear if these outcomes will persist given the much greater number of children with COVID-19 infections who were hospitalized during the summer of 2021. The best approach to preventing MIS-C remains reducing the risk of SARS-CoV-2 infection through vaccinating adolescents and - pending regulatory approval in the next few weeks - younger children.

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This post first appeared on the AFP Community Blog.

Like public health, primary care is in critical condition

The COVID-19 pandemic has exposed the negative consequences of two decades of neglecting public health at the local, state, and federal levels. After 9/11 and the following month's anthrax scare brought a temporary infusion of funds to public health departments to combat bioterrorism, the Great Recession of 2007-2009 resulted in deep budget cuts and layoffs that were never completely reversed. Even the Affordable Care Act's Prevention and Public Health Fund, a mandatory spending source for public health programs, was derided as a "slush fund" by opponents and repeatedly raided by both parties to pay for clinical initiatives such as launching the national insurance marketplace Healthcare.gov and avoiding cuts to Medicare physician payments. 

A less recognized but equally important problem is how a similar period of primary care neglect made the U.S. ill-prepared to deploy the most potent weapon we have against morbidity and mortality from the virus: three safe, effective vaccines. Mass vaccination events and making shots available in chain pharmacies were only ever going to take us so far. Since most vaccinations have historically been delivered by primary care physicians, failing to involve primary care organizations earlier in the vaccine rollout was a huge unforced error. Still largely reliant on fee-for-service payment models, primary care practices were battered financially during the early part of the pandemic when office visits plummeted. Although most family physicians weathered that storm, there aren't nearly enough of us in the first place. A recent study estimated that increasing the density of primary care physicians in U.S. counties with shortages could increase mean life expectancy by 56 days; increasing the supply of subspecialists, by contrast, doesn't extend life at all.

When she titled a recent editorial "Prioritizing Primary Care Can Save the U.S. Health Care System," Dr. Ada Stewart, President of the American Academy of Family Physicians, wasn't exaggerating. Even before last year's precipitous drop in life expectancy due to the pandemic, the U.S. already badly trailed most high-income countries. As Dr. Stewart wrote:

Our current system financially rewards individual health care transactions and financially penalizes long-term relationships between a patient and primary care team. It undervalues the essential care that occurs outside of the examination room. Benefit designs that place high cost-sharing requirements on patients, have onerous in-network and out-of-network rules, and rely heavily on utilization management make primary care less accessible for patients. Coupled with the crippling administrative functions placed on physicians and the low compensation rates for primary care services, we have a system that deemphasizes rather than prioritizes primary care.

There have been some promising efforts to finally prioritize primary care. A consensus report published this spring by the National Academy of Medicine declared that "primary care is a common good" and proposed five broad objectives that, if met, would dramatically improve population health:

1. Pay for primary care teams to care for people, not doctors to deliver services.

2. Ensure that high-quality primary care is available to every individual and family in every community.

3. Train primary care teams where people live and work.

4. Design information technology that serves the patient, family, and the interprofessional care team.

5. Ensure that high-quality primary care is implemented in the United States.

Reaching these objectives will require coordinated leadership from federal health agencies such as the Department of Health and Human Services, the Department of Veterans Affairs, the Health Resources and Services Administration, and the Office of the National Coordinator for Health Information Technology. It will require investments in primary care research from the Agency for Healthcare Research and Quality and the National Institutes of Health. And it will require reorienting a U.S. health care industry that isn't built for primary care to instead make primary care the fulcrum of a true health care system. As Elation Health CEO Kyna Fong wrote, "There has long been a sense that reinventing primary care is a key to fixing health care. This key hasn’t been working because we’ve been giving primary care doctors the wrong roles and measuring 'success' the wrong way. Primary care is uniquely positioned to explore the root cause of poor health and create a path to wellness. In order to do that, physicians need time to build relationships and trust with patients using tools to manage care in a complex and fragmented system. So many of health care’s problems could be solved if we started with that fundamental understanding."

Why am I - a career family physician who has never worked outside of the U.S., after all - so confident that boosting primary care is the answer to many, if not most, of our country's lagging health performance? Because other countries have already done it successfully. Dr. Atul Gawande described the latest example in his recent New Yorker article "The Costa Rica Model," where he observed that Costa Rica's average life expectancy is higher than that in the U.S. even though their per-capita income is a sixth of ours and the fraction they spend on health care even smaller. How do they manage to do this? After developing an outstanding public health system in the 1970s and 1980s, in the 1990s they combined their public health and medical care departments and assigned every single Costa Rican to a local primary care team (a doctor, a nurse, and a community health worker). In the U.S., by contrast, one-quarter of adults don't have a source of primary care. When these people get sick, they must seek care from a clinician they've never met and are unlikely to fully trust, whether it's in the emergency department, urgent care, or a random primary care office. And when they feel well, they don't have access to any of the preventive services that will help them stay well. That's a perfect recipe for living shorter, not longer.

The challenge of correctly diagnosing high blood pressure

Screening for high blood pressure in adults can seem straightforward, but actually can be quite complex. The U.S. Preventive Services Task Force (USPSTF) recently reaffirmed its longstanding recommendation to screen for hypertension with office blood pressure measurement but advises confirming the diagnosis with measurements outside of the clinical setting. The diagnostic standard for out-of-office measurement is 24-hour ambulatory blood pressure monitoring (ABPM), but ABPM is often unavailable, not covered by insurance, or inconvenient for patients.

A more accessible alternative, reviewed by my colleagues in the September issue of American Family Physician, is home blood pressure monitoring (HBPM). In addition to confirming a hypertension diagnosis, HBPM can be used to identify white coat hypertension (elevated readings in the office but normal readings at home) and masked hypertension (elevated readings at home but normal readings in the office). Patients can purchase a clinically validated blood pressure monitor for $37 to $100 without insurance, and this expense may be reimbursed from a health care flexible spending account. The downside of HBPM - which I can testify to as a doctor and a patient myself - is that patients sometimes forget to check their blood pressures at home or forget to record and bring in the readings.

What is the role of automated oscillometric office blood pressure (AOBP) devices such as those used in the Systolic Blood Pressure Intervention Trial (SPRINT)? A systematic review and meta-analysis previously summarized in AFP found that AOBP systolic measurements were on average 14.5 mm Hg lower than manual blood pressures in patients with hypertension and better aligned with values obtained with ABPM. In a Letter to the Editor in the August issue, Dr. Lenard Lesser argued that the USPSTF "missed an opportunity to promote AOBP measurements as an easier-to-implement alternative to ambulatory blood pressure monitoring." Dr. Lesser pointed out that the only randomized trial of hypertension screening cited by the USPSTF that reported improvements in clinically meaningful outcomes actually used AOBP.

In the latest entry in JAMA's Rational Clinical Examination series, Dr. Anthony Viera and colleagues systematically reviewed studies that addressed the question, "Does This Adult Patient Have Hypertension?" Comparing AOBP with HBPM, they found that 

The thresholds for defining hypertension and the prevalence of hypertension were similar in office BP measurement and home BP measurement studies, and the estimated predictive values of office oscillometric BP measures and HBPM were numerically nearly identical. ... The combination of results from office BP measurement and HBPM has better diagnostic accuracy than the independent results alone, and when concordant, is likely sufficient for diagnosis. However, 24-hour ABPM should be considered when results are discordant, especially for patients with a higher pretest probability of hypertension.

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This post first appeared on the AFP Community Blog.

International alliance of health journals calls for emergency action on climate change

Two weeks ago, more than 200 health journals simultaneously published an editorial calling on health professionals, policy makers, and governments to support emergency actions to limit average global temperature increases to below 1.5 degrees Celsius. Asserting that increases above that level would "risk catastrophic harm to health that will be impossible to reverse," the editorial's authors advocate for "fundamental and equitable changes to societies" to alter the world's current catastrophic temperature trajectory:

Equity must be at the center of the global response. Contributing a fair share to the global effort means that reduction commitments must account for the cumulative, historical contribution each country has made to emissions, as well as its current emissions and capacity to respond. Wealthier countries will have to cut emissions more quickly, making reductions by 2030 beyond those currently proposed and reaching net-zero emissions before 2050.

In August, a landmark report from the Intergovernmental Panel on Climate Change (IPCC) concluded that human activities since 1850, primarily burning of fossil fuels, have already warmed the planet by 1.1 degrees Celsius. At 1.5 degrees, the IPCC warned, extreme weather patterns would become more frequent, and rising sea levels, vector-borne diseases, life-threatening heat waves, and severe droughts would affect billions of people worldwide. Currently, the 10 countries with the greatest greenhouse gas emissions (China, the U.S., the European Union, India, Russia, Japan, Brazil, Indonesia, Iran, and Canada) account for more than two-thirds of global emissions.

American Family Physician, where I have been Deputy Editor since 2018, strongly supports this global effort to prevent future environmental catastrophes. Our first full-length clinical review article about the health impacts of global warming appeared in 2011. An accompanying editorial highlighted the physician's role in efforts to slow global warming, including reducing the carbon footprints of hospitals and health care facilities. In 2016, my Georgetown colleague Caroline Wellbery, MD, PhD observed that the 2015-2020 Dietary Guidelines for Americans' "heart-healthy recommendations align with ... environmental concerns," making eating less meat a healthy and environmentally responsible dietary choice.

A 2019 update on managing health impacts of climate change discussed ways that clinicians can mitigate "morbidity and mortality from worsening cardiopulmonary health, worsening allergies, and greater risk of infectious disease and mental illness, including anxiety, depression, and posttraumatic stress disorder from extreme weather events." Health professionals must recognize how their workplaces directly contribute to making climates less healthy: "The U.S. health care sector is responsible for 10% of all greenhouse gas emissions, 10% of smog formation, 12% of air pollution emissions, and smaller but significant amounts of ozone-depleting substances and other air toxicants." The article also suggested counseling patients on the personal and environmental benefits of utilizing active transport and a consuming plant-based diets.

Physicians' lack of training in climate science and global warming's negative impacts on health may be an obstacle to leveraging the collective authority of the medical profession to address the climate crisis. This gap is closing, though, as recent editorials in Academic Medicine have called for critical curricular reforms in medical school and residency education, and in some cases, medical students themselves have been leading these educational efforts.

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This post first appeared on the AFP Community Blog.

Selections from last week's #COVIDtweets

I've had limited time for blogging for the past several weeks, as I've been working on some academic projects and spending more time on Twitter promoting COVID-19 vaccination in everyone aged 12 years and older (#ThisIsOurShot) and debunking misinformation and disinformation posted by "antivaxxers." As a family and public health physician, it is enormously frustrating to watch the U.S. squander its early advantages in vaccine distribution as other countries that started later have surpassed us in the percentages of their populations that have been fully vaccinated. Although the vaccines have already prevented hundreds of thousands of deaths in the U.S., we are still losing 1,500 overwhelmingly unvaccinated persons to the virus every day, and nearly all of these deaths - unlike during the "third wave" in December and January - were avoidable. Online influencers who stoke distrust of government and public health institutions are largely responsible for prolonging this ongoing tragedy. Unfortunately, some of these people are practicing physicians who have flaunted the ethical standards of our profession by refusing to get vaccinated themselves.

If any US doctor at this point is not fully vaccinated for any reason other than an anaphylactic reaction to vaccine, that doctor should surrender his/her license to their state medical board for violating ethical rule #1 of our profession: first, #donoharm.

— Kenny Lin, MD, MPH (@kennylinafp) September 5, 2021

As you might imagine, this tweet generated a wide spectrum of responses. Perhaps my favorite was the one that accused me of being "militant," which I won't disagree with, since the U.S. Department of Defense has mandated COVID-19 vaccination for all active military service members.

Here is a selection of other recent tweets that didn't go quite as viral, but represent my deeply held scientific and religious views on this topic.

“If you insist on refusing the vaccine, that is your right. But please do not bring God into it.” Well said from a fellow Christian. https://www.nytimes.com/2021/09/06/opinion/religious-exemptions-vaccine-mandates.html 

Declining to vaccinate your adolescent against COVID-19 because “kids usually have mild illness” and you worry about vaccine side effects is like not buckling your seat belt b/c you worry about seat belt injury in a car accident.

I am sick and tired of seeing so many who should know better sacrificing their vulnerable neighbors, elders, and children on the altar of their delusion that the vaccine is worse than the disease. #COVID19 #GetVaccinatedNow

If all employers followed @NFL's example, our current 75% vaccinated rate could rise to their 93% (or even beyond) in a hurry. #GetVaccinatedNow #CarrotsAndSticks

I don't have a crystal ball, so I don't know when the off-ramp for masks in schools and indoor public places will arrive. But I do know it will continue to move farther away the longer people refuse to wear masks or get vaccinated to protect each other. #COVID19

Submitted my proof of COVID-19 vaccination to @MedStarHealth (employer) and @_DCHealth today. Thanks for requiring me and local health professionals to keep their colleagues and patients safe by reducing their risk of contracting / spreading SARS-CoV-2! #COVIDVaccineMandate

Any person of faith should understand that #freedom is not the same thing as "I can and should do anything I want regardless of how it may affect others." In fact, it's just the opposite. #COVIDthoughts

Science: a randomized controlled trial of 350,000 people showed that encouraging mask wearing prevents COVID-19 spread. Florida: we are taking away your school district’s funding for making people wear masks. 

Worried about myocarditis if you let your 12-15 y/o get the Pfizer vaccine? In @AmerAcadPeds study, children <16 y/o were 37 times more likely to develop myocarditis if COVID infected than if not. Risks/ benefits not even close! #GetVaccinatedNow

A reminder that "having preexisting conditions" or "living in a nursing home" DOES NOT mean "would have died soon anyway." #BadCOVIDTakes #ProtectTheVulnerable #GetVaccinated

As we study the value of infection vs. vaccine-mediated immunity to SARS-CoV-2, a reminder that "developing immunity to COVID" is not a goal in itself (if it was, we'd just hold huge parties, infect everyone, ignore the resulting morbidity & mortality). (1/2)

Rather, the goal is for the fewest # of people to get seriously ill or die from COVID-19. The safest way to do that is through widespread vaccination. COVID-19 vaccines are safe, effective, and unlike the virus, don't expose people to the risk of intubation, ICU, and death. (2/2)

Nonselective full-tuition scholarships don't produce more primary care physicians

A few years ago, I wrote about NYU Grossman School of Medicine's decision to award full tuition scholarships to all current and future medical students, and my skepticism that this generous policy would achieve my alma mater's stated goals of recruiting a more socioeconomically diverse student body and sending more graduates into primary care fields. I was not the only person to gently criticize NYU's approach to these important issues; Kaiser Health News editor and former emergency medicine physician Elisabeth Rosenthal wrote in a New York Times opinion piece that "instead of making medical school free for everyone, NYU - and all medical schools - should waive tuition only for those students who commit to work where they are needed most." As an example, she pointed to selective scholarships awarded by NYU's law school each year to 20 students who commit to careers in low-wage public service. Dr. Rosenthal also argued that since academic medical centers receive billions of dollars in public funds to train new doctors and don't pay taxes due to their nonprofit status, "Every academic medical center should see training the medical work force America needs not as charity but as an obligation, a 'community benefit' of the highest order."

As for increasing diversity, another laudable goal, Dr. Billy Thomas wrote in a JAMA Viewpoint:

If medical school admissions processes continue to be weighted toward metrics [e.g., GPAs, MCAT scores] and the number of minority, disadvantaged, and marginalized applicants remains stagnant, attempts to diversify the health care workforce will fall far short, despite reduced or free tuition. ... The NYU program may increase diversity at NYU, but taken in context with the stagnant national applicant pool, the increased enrollment at NYU may result in a “zero sum effect” on the national health care workforce as it relates to diversity and, by extrapolation, have no significant effect on our efforts to reduce health disparities and improve population health.

When I interview prospective Georgetown medical students, NYU usually comes up in conversation, from the medical diploma hanging on my wall, if nothing else. Of course most of them apply to NYU, and if accepted, they'd most likely attend, no matter how much they loved Georgetown or Hopkins or Harvard or anywhere else without free tuition. Indeed, NYU's total applications increased by almost 50 percent, and applications from underrepresented groups more than doubled.

Another problem: according to a 2018 analysis of public data on medical school endowments, enrollment, and tuition expenses, only 20 of 141 U.S. medical schools were financially positioned to afford going tuition-free for all students. Notably, NYU shrunk its class size by at least a third from its size at the time of my graduation, presumably to lower the cost of providing every student with a scholarship. Like NYU, Harvard, which unsurprisingly tops the list of wealthy schools, doesn't even have a family medicine department, where establishing one would be an investment more likely to pay off for primary care than simply making school free with no service requirement.

Meanwhile, Dr. Bich-May Nguyen, a family physician with whom I've previously collaborated, published a report in Family Medicine of a survey of 74 physicians who graduated from two BS/MD programs in Texas from 2003 through 2013 that provided full scholarships for college and medical school. 18 of these physicians went into primary care, which is around the average for medical students nationally. Dr. Nguyen and her coauthor noted that the motivations for these physicians' specialty choice were similar to those from surveys of physicians who only received partial or no tuition assistance:

People interested in primary care were also interested in serving underserved or minority populations, health promotion, patient continuity, and patient advocacy. ... The second theme was found in statements supporting high income potential, prestige among colleagues, inpatient hospital care, and quick results from interventions. ... Additionally, the respondents most interested in high incomes did not enter primary care.

Ultimately, there are far less expensive solutions to the problems that NYU was trying to address by waiving medical school tuition. Want a more diverse student body? Admit more minority and low-income students. Want more students to go into family medicine and primary care? Establish and support departments in those fields, and admit more of the types of students who tend to pursue primary care. They won't necessarily have the highest GPAs or MCAT scores or the social advantages bestowed by wealthy parents (and potential future donors), but as the 2019 college admissions scandal showed, those things are overrated anyway.

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This post first appeared on Common Sense Family Doctor on March 14, 2019.

Using risk calculators in lung cancer screening discussions

As readers may recall, I changed my mind on lung cancer screening last year and have been working on incorporating screening discussions into visits with eligible patients in my clinical practice. The American Academy of Family Physicians recently endorsed the U.S. Preventive Services Task Force (USPSTF)'s 2021 recommendation to offer annual lung cancer screening with low-dose computed tomography (LDCT) to adults aged 50 to 80 years with at least a 20 pack-year smoking history who have smoked within the past 15 years. Although a meta-analysis of 8 randomized controlled trials found that people screened with LDCT are 19% less likely to die from lung cancer (NNS = 250), it also concluded that about 20% of tumors are overdiagnosed, in line with a previous report from the U.S. National Lung Screening Trial. Unfortunately, doctors do not often discuss harms of lung cancer screening such as overdiagnosis, overtreatment, and complications of diagnostic procedures performed for positive tests.

Deciding if the potential benefits outweigh the harms of lung cancer screening for an individual patient requires a way to personalize estimates of benefit based on patients' risk factors. In a Letter to the Editor regarding a 2019 American Family Physician article on the pros and cons of lung cancer screening, Dr. Abbie Begnaud and colleagues suggested:

If an eligible patient is reasonably healthy, clinicians could consider calculating individualized lung cancer risk using one of several well-validated risk models. We and others have developed web-based tools to help clinicians incorporate individualized risk calculations into decision-making. Individualized risk assessment can be helpful because patients at higher risk of developing lung cancer are also more likely to benefit from early detection through screening. When lung cancer risk increases, uncertainty about whether to recommend screening decreases when the person has a reasonable life expectancy.

Unlike risk prediction tools for cardiovascular disease and breast cancer, however, there is no consensus on which lung cancer risk calculator should be used. A systematic review published earlier this year in the Journal of General Internal Medicine identified 10 publicly available risk calculators and assessed their performance in 16 hypothetical patients across the continuum of lung cancer risk. The calculators used varying inputs (demographic factors, cancer history, smoking status, and personal and environmental factors) to generate lung cancer risk estimates; unsurprisingly, there were substantial differences in risk estimates for 10 of the 16 hypothetical patients. The authors concluded that the lack of standardization of lung cancer risk factors and consistency in risk estimates from web-based calculators may be an obstacle to shared decision making.

Notably, the USPSTF statement "recommends using age and smoking history to determine screening eligibility rather than more elaborate risk prediction models because there is insufficient evidence to assess whether risk prediction model–based screening would improve outcomes relative to using the risk factors of age and smoking history for broad implementation in primary care." In a Putting Prevention Into Practice case study in the July issue of AFP, Drs. Howard Tracer and James Pierre explained how to apply the Task Force recommendations in clinical practice. It will be interesting to see if the Centers for Medicare and Medicaid Services decides to follow the USPSTF and waive its current requirement for a shared decision-making visit prior to lung cancer screening.

Why you should just say no to "routine blood work"

You're at your family doctor's office to have a complete physical. Maybe you're starting a new job, or have recently joined a wellness program in your community, or it's been more than a few years since you've had a checkup and you (or your spouse or significant other) just want to make sure that everything's OK. Your doctor briefly reviews your medical history, performs a physical examination, says a few encouraging words about eating a healthier diet and exercising more, and then you're done.

You picked this doctor out of the five in the practice because your friend told you he was a sharp young fellow, but now you're not so sure. What about the blood work? You don't need any blood work, he says. Not even a urine sample? This is confusing. You've always had blood work and urine tests at your other physicals, and your insurance is footing the bill, after all. You wonder if this doctor really knows what he's doing.

This is a common situation that I face in primary care practice. For years, patients have been used to having blood samples drawn even if they felt completely well. Even today, when we know better (or ought to), up to one-third of primary care physicians still perform "routine blood work" (usually consisting of a complete blood count, a chemistry panel, liver function tests, thyroid tests, and a urine analysis) at adult physical examinations. So why is this such a bad idea? In 2007, I co-authored an editorial in the journal American Family Physician about this topic. We wrote:

"Big-ticket" tests [such as CT scans and MRIs] are easy targets for those seeking to reduce waste in health care. But what about the seemingly innocuous practice of performing routine tests such as a complete blood count (CBC) or urinalysis? ... These tests would be useful only if they provided additional diagnostic information that would not otherwise be obtained during a history and physical examination. In fact, large prospective studies performed in the early 1990s concluded that these tests rarely identify clinically significant problems when performed routinely in general outpatient populations. Although the majority of abnormal screening test results are false positives, their presence usually mandates confirmatory testing that causes additional inconvenience, and occasionally physical harm, to patients.

Don't misunderstand me. There are certain situations in which targeted screening tests can provide valuable information for the early detection of diseases. To learn more about which tests are recommended for your or your family members, I recommend that you visit the excellent website Healthfinder.gov. But the next time you go to a doctor's office and he or she proposes to check some "routine blood work," be sure to ask what these tests are for and what would happen if any of them turn out to be positive, so that you can make an informed choice about what's right for you.

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This post first appeared on Common Sense Family Doctor on September 13, 2009, and remains as relevant now as it was then.

Pharmacogenetic testing's usefulness remains limited

For patients with frequent episodes of gout, I often prescribe the drug allopurinol to lower their uric acid levels and prevent future episodes. This drug isn't for everyone, though. In 2019, Dr. Carl Bryce wrote a diagnostic test review in American Family Physician about the allopurinol hypersensitivity assay, "a blood test to detect the presence of a human leukocyte antigen B [HLA-B] genetic variant that increases the risk of life-threatening, severe cutaneous [skin] reactions in patients taking allopurinol." According to this article and a rapid evidence review of gout, testing was recommended for Korean adults with stage 3 or higher chronic kidney disease and all adults of Han Chinese or Thai descent, who have a higher frequency of the variant, prior to initiating allopurinol. In 2020, the American College of Rheumatology (ACR) simplified and broadened this testing recommendation to "people of Southeast Asian and African American descent."

Though pharmacogenetic testing holds promise for improving clinical decision-making, a recent JAMA viewpoint contended that race-based testing recommendations are problematic. Even a racially homogenous European country such as Switzerland exhibits wide genetic diversity in the frequency of the HLA-B*58:01 allele, with one city (Basel) actually having a higher frequency than the overall U.S. African American population. Further examination of the ACR's race-based guidance reveals additional complexities and contradictions:

The ACR guideline cites Han Chinese, Korean, and Thai as examples of Southeast Asian descent, even though China and Korea are not typically considered Southeast Asian countries. The guideline then states that screening is cost-effective in Asian populations generally. However, Japan is in Asia, but the allele frequency of HLA-B*5801 in Japan is even lower than that of White individuals in the US, who are not recommended for screening. In addition, the recommendation to screen all African American patients in the US before prescribing allopurinol belies wide-ranging HLA-B*5801 variation across Africa, where reported HLA-B*5801 frequencies, based on small sample sizes, range from 1% (comparable with White individuals in the US) to 10% (comparable with Thailand).

In a noteworthy editorial, Dr. Bonzo Reddick took aim at a related issue: the widespread use of diagnostic and clinical prediction tools that, like pharmacogenetic tests, incorrectly utilize race as a proxy for genetic differences. These include the atherosclerotic cardiovascular disease (ASCVD) Pooled Cohort risk calculator, equations for glomerular filtration rate (GFR), a calculator for predicting the likelihood of a successful vaginal birth after cesarean delivery, and pulmonary function testing "correction factors" for Black and Asian patients.

Recognizing that "claims about pharmacogenetic testing ... are inconsistently supported by scientific evidence, and most tests have not been examined by the U.S. Food and Drug Administration [FDA]," Drs. Wendy Rubinstein and Michael Pacanowski shared the FDA's perspective on what clinicians need to know in the July issue of AFP. In a table of selected pharmacogenetic associations, they summarized known and potential gene-drug interactions and recommendations for clinical practice. In a diagnostic test review in the same issue, Dr. Natasha Pyzocha evaluated GeneSight Psychotropic, an expensive test panel that analyses 12 genes with possible interactions with 57 neuropsychiatric medications. Dr. Pyzocha concluded that while this test may help patients who have had multiple unsuccessful trials of therapy, "because only a small population of patients are expected to have genetic phenotypes that would necessitate medication changes, ... routine genetic testing is not recommended," and "choosing antidepressants based on health history and symptoms should still be the standard initial approach."

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This post first appeared on the AFP Community Blog.