Direct to consumer genetic testing and Oprah

Recently a patient shared with me her genetic profile done by 23andMe, a company that provides direct to consumer (DTC) genetic testing.  Initially skeptical about the value of such testing, I have recently investigated it further.  Should I be discouraging my patients from spending money on this type of screening?  Does it offer any value? What are the diagnostic validity and the predictive value of these tests? How are DTC genetic tests regulated for quality and safety? These are some of the questions that I asked myself as I quickly scanned my patient’s test results.

Some of you may know that Oprah Winfrey has had genetic testing done for the purpose of exploring her ancestry.  As reported by Conrad Phillip Kottak:

"Oprah Winfrey made headlines in 2005 when she reported that a DNA test had revealed her (highly unlikely) Zulu ancestry. A more plausible result in 2006 linked Oprah to the Kpelle people of Liberia and Guinea, the Bamileke people of Cameroon, and the Nikoya people of Zambia.  Ever the DNA explorer, Oprah in 2011 reported her discovery, confirmed by genetic testing, that she had a younger half sister whom her mother had placed for adoption.” Window on Humanity, 5th edition, to be published October 2011 by McGraw-Hill

In medicine there are over one thousand genetic tests available for clinical use.  What are genetic disorders and what do these tests screen for?  In some cases genetic tests screen for diseases that are caused by a single gene, such as Cystic Fibrosis or Sickle Cell Disease. However, with increasing frequency, genetic tests screen for predisposition to diseases that are known to be multifactorial, such as type 2 diabetes, cardiovascular disease or depression.  In 2010 a list of DTC genetic testing companies and the conditions that they screen for was compiled by the Genetics and Public Policy Center.  Most DTC companies that market genetic tests are Internet based companies.   The process involves sending a DNA sample off to the company in the form of saliva or a blood swab.  The company then engages a laboratory to do genetic testing, and the testing results are returned directly to the consumer. The cost of DTC genetic testing ranges from one hundred to one thousand dollars.

Those who oppose DTC genetic testing argue that making this type of complex information available to the consumer without adequate counseling by a health professional could be dangerous, that the notion of relative risk is difficult to interpret, and that there is currently inadequate oversight of laboratories engaged in DTC genetic testing to ensure the analytic and clinical validity of tests.  The FTC has issued a consumer alert warning the public that “some of these [DTC] tests lack scientific validity, and others provide medical results that are meaningful only in the context of a full medical evaluation.”  Currently the FDA regulates commercial “test kits” to ensure analytic and clinical validity.  However, the FDA does not regulate laboratory-developed testing.  In addition to the regulatory concerns there are also concerns about DTC genetic testing and compliance with health information privacy, HIPAA.

The American Society of Human Genetics has recently written recommendations with respect to DTC genetic tests.  Regarding DTC Personal Genomics the National Human Genome Project states:

"The relationships between particular genetic variations and the presence or absence of specific diseases or traits are often tenuous and the interpretation of the findings can change over time. This makes the communication of clear and accurate genetic information challenging, even in ongoing face-to-face clinical settings. It is not known how individuals and society more broadly, might understand and interpret this information when it is provided directly to individual consumers."

Despite these cautionary stances recent studies of consumers using DTC genetic testing have indicated otherwise: 

"David Kaufman of the Genetics and Public Policy Center at Johns Hopkins University conducted an NHGRI-funded survey of 1,048 people who had purchased a DTC test from 23andMe, DecodeMe, or Navigenics.  Kaufman reported that nearly everyone indicated that the risk reports they received from the companies were easy to understand, though some overestimated their understanding of the results. The group also asked respondents to interpret data for two fictitious people to gauge their understanding of the risk reports. Between 4 percent and 7 percent of the respondents misinterpreted what they saw.  Kaufman said that just more than three-quarters of his team's survey respondents said that they ordered the test to improve their health, and some of the respondents said that they'd been motivated to modify their behaviors in light of their test results: 15 percent changed medications or supplements, and 14 percent began exercising more."

In another study, reported in the New England Journal of Medicine in February of 2011, consumers using DTC genetic profiling had no evidence of increased psychological distress, change in diet or exercise behavior, or use of preventive screening tests as a result of their genetic testing. 
Given these results, is the medical community being overly cautious?  Should the average consumer be trusted to order and interpret his or her genetic profile without a medical intermediary?  Many DTC companies have been shown to produce results that have a high degree of analytic validity.

In the case of my recent patient, she seems to have a very reasonable attitude. Despite the test’s prediction of low cardiovascular risk, she did not write off her high cholesterol, but was still willing to treat it with medication.    We should be able to interpret relative risks in the context of complex multifactorial disease and the most recent clinical data.  Though in the present its clinical applicability seems limited, in the future we will be increasingly tasked with managing this information alongside of our patients, who like Oprah, will be ever curious to learn more about their genetic origins.

Part time women in medicine: are they pulling their weight?

A number of years ago I was seeing a female executive for a physical exam.  As I chatted with the sixty-something female CEO she remarked: “women sell themselves short,” attributing the lack of women in top management positions to their tendency to opt for less ambitious “mommy tract” positions.  While I had certainly heard these words before, that day they hit closer to home.  At the time I was in year nine of employment at the Emory Clinic and feeling professional success in my job, which included a leadership position within my practice. I was the senior woman in my group, the university-based general medicine practice of Emory, and a busy and well-liked internist.  Though at the time I had been recipient of various departmental awards, I was still an assistant professor—a detail that was, in fact, a chip on my shoulder.  However, no woman in my practice had ever been promoted to associate professor.

When my first child was born in 1999 I had opted for “part-time” status, 75 percent of full-time, gradually increasing my work load after my second child turned four to 90 percent of full time.  My husband is an interventional cardiologist and our work-life balance had been tough. Thankfully, I had a wonderful nanny who helped out at home.

Now, working full time in a medical practice that I started, I reflected on those years again after reading a recent editorial in the New York Times on part time women in medicine. The piece, Don't Quit this Day Job, authored by Karen Sibert, an anesthesiologist, argued that federal funding for residency training was wasted on women who increasingly opt for part-time positions. In fact over 50% of female physicians report seeing patients fewer than 40 hours per week (most commonly 30 to 40 hours per week), compared to men, who more commonly report spending 41 to 50 hours per week on patient care. When I posted Dr. Sibert’s editorial on Facebook it was met with a flurry of impassioned negative responses by many of my female physician colleagues, who have opted for the flexibility of part-time primarily in order to accommodate their domestic roles as primary caregivers of young children.

 In my experience women working “part-time” in medicine and earning “part-time” incomes often add professional work into their unpaid time—seeing extra patients, taking equivalent call despite a part-time salary, and in the academic setting, taking on unpaid teaching, or educational administrative positions.  In fact, I recognize that it was my part-time status that enabled me to participate in these types of activities and actually helped my reputation in my division, allowing me to pursue professional interests that I would not have had time for otherwise.

In the past several decades women have made significant gains toward equal status in medicine. According to statistics from the Association of American Medical Colleges, in the year that I graduated from high school, 1986, 31% of medical school graduates were women.  In 1994, when I graduated from medical school, 39% of graduates were women, and in 2010 48% of medical school graduates were women.  However, as in other fields, women still lag far behind men in terms of their representation in leadership positions.  In terms of income, significant gaps also remain.  In the past these income disparities have been attributed to differences in work hours and a tendency for female physicians to enter primary care fields.  However, a provocative recent study published in Health Affairs found that an average gap of $16,819 in salary between newly trained female and male physicians could not be explained by controlling for these factors.

Why should we care about having female physicians? Studies have suggested some differences between male and female physicians. 
Findings include:

• Women may spend more time with their patients.
• Women have different communication styles—they are perceived as more empathic and sensitive.
• Women tend to employ more participatory decision-making styles, which are correlated with higher patient satisfaction.
• Women tend to emphasize preventive services more.
• Women are more likely to discuss lifestyle and social concerns.

Of course these observed differences are highly variable depending on the  individual physicians in question. Interestingly, male gynecologists have been rated as more empathic and sensitive than male physicians in other fields.  Nonetheless, there is strong female preference for female gynecologists. The interaction between gender and patient preference is complex. One interesting study looked at 10,000 patients in an HMO setting and found that male patients of female physicians were the most satisfied customers, compared with female patients of these same female physicians, who were the least satisfied group.  Patients have different expectations about communication between male and female physicians and this may impact their satisfaction with care.

Going back to the female CEO, I too have been let down at times by what I have perceived as a relative lack of career ambition in some female physicians.  Thinking about it, however, I’ve been equally let down by male physicians with what I viewed as misguided professional goals. If women can best manage their careers in medicine as part-time then so be it.  Society will benefit, perhaps we will learn something from one another, and women in medicine are already paying the price.

ACP Leadership Day 2011

Last month I attended the American College of Physician’s Leadership Day at the Capitol. The American College of Physicians is a national organization of internists--physicians who specialize in the prevention, detection and treatment of illnesses in adults. ACP is the largest medical-specialty organization and second-largest physician group in the United States after the AMA.

ACP Leadership Day brings together primary care physician advocates from all over the country to discuss national health policy and to lobby for key health regulation. I went as a representative of the Georgia Chapter along with six other physicians from our state, including our Chapter Governor, Jacqueline Fincher, MD, MACP, a medical resident and a medical student from Emory University School of Medicine and Executive Director of the Georgia Chapter, Mary Daniel.  The event included a learning session in which we reviewed the ACP’s priorities.  We heard from ACP president Virginia Hood and Bob Doherty, SVP, Governmental Affairs & Public Policy for ACP. Dr. Doherty also summarizes the day in his blog ACP Advocate.

Nancy Nielsen, MACP, Senior Advisor, Center for Medicare & Medicaid Innovation spoke, appealing to physicians to provide feedback to the Center on the recently proposed rule for Accountable Care Organizations, which has been criticized for its complexity and for being out of reach for smaller medical practices.  We also heard from a bipartisan congressional panel that discussed the ACP priority issues in the context of current legislative considerations. As one might imagine, much of this year’s discussion focused on the national budget crisis and lack of available funds for key Accountable Care Act programs.  Later in the evening, after a keynote address by Alex Castellanos, Political Strategist and Analyst at CNN, Max Baucus was awarded the Joseph F. Boyle Award for Distinguished Public Service. 

The ACP supports the following legislative action:

•  Fix the Sustainable Growth Rate:  The "SGR" is the formula used to determine physician payment by Medicare. The formula is linked to the GDP. However, with advances in technology and the aging population, health expense has outpaced inflation leading to a series of short term fixes to avoid drastic cuts in physician payment.  The "fixes" continuously threaten to expire. The next expiration date is January 1^st, 2012 when physician payment will be cut by 29.5% unless action is taken.  As reported recently in Modern Medicine: 

"Wiping out Medicare’s accumulated debt would cost almost $300 billion, according to the Congressional Budget Office, and maintaining it with 0% updates until the end of the decade would cost more than $275 billion. With the current focus on reducing the deficit, neither of those options looks appealing."

• Fund programs that support expansion of the primary care workforce:   the National Health Service Corps, Section 747 Training in Primary Care Medicine and the National Health Care Workforce Commission.   

• Strengthen access to primary care, improve quality and lower cost by funding: 
• The Medicare Primary Care Incentive Program, which preserves primary care incentive payment through 2015, while enacting further reforms to strengthen primary care (Medical Homes and Accountable Care Organizations).
• The Medicaid Comparability Program (ties Medicaid payment rates to Medicare rates--currently they are significantly lower).
• The Center for Medicare and Medicaid Innovation.  The new Center needs adequate resources to accelerate broad pilot testing of new health care delivery models to improve access, quality and value)
• The Patient Centered Outcomes Research Institute, which researches the clinical effectiveness of different treatments to better inform patients and physicians in decision-making.

• Improve Health Reform by supporting:
• Empowering States to Innovate (allows states to opt out of ACA requirements three years early if they enact a program with equivalent coverage, i.e. Vermont).
• Patient’s Freedom to Choose Act, which repeals a provision of the ACA that requires that physicians provide written authorization for over the counter drugs reimbursed by a flexible spending account or a health savings account.
• State pilots to test health courts (would have medical liability cases heard by expert judges rather than lay juries).

On Thursday the Georgia Chapter broke out into small groups to speak with our legislators about these priorities.  Among others, our chapter met personally with Senator Saxby Chambliss and Representative Tom Price.  I was struck by various things I learned while at Leadership Day.  As I spoke with a local physician who is employed by the Piedmont Physician’s Group in Atlanta I learned that this large multispecialty group is no longer accepting new Medicare patients who are enrolled in Medicare Advantage programs, and that many Piedmont physicians are also closed to new traditional Medicare patients. This speaks to the significant access issue that patients of the future will have unless Medicare is able to successfully reform, while still guaranteeing stable reimbursement for physicians. 

In Washington there was significant discussion about Medicare innovation and the proposed new models of care delivery—Medical Homes and Accountable Care Organizations.  Whether or not participation in such models will be feasible for small independent physician practices remains to be seen—and many are fearful.  At present most physicians cannot get health insurance funding for being “Medical Home” certified.  Locally, in Atlanta, several hospital-based groups are experimenting with Medical Home Pilots:   Wellstar participates in a Medical Home pilot with Humana, Piedmont Physicians Group participates in a Medical Home pilot with Cigna, and Emory will soon launch a Medical Home pilot with Aetna. However, none of these pilots involve more than a single payer.

While I sensed bipartisan support for fixing the SGR, there was significantly less agreement about how to best reduce Medicare cost while improving quality of care and access.  

CMS’ Administrator Don Berwick recently stated in the Health Affairs blog that health care transformation

"won’t yield to a massive top-down national project...Successful redesign of health care is a community by community task. That’s technically correct and it’s also morally correct, because in the end each local community – and only each local community – actually has the knowledge and the skills to define what is locally right"

This being said, Dr. Berwick will need to work to succeed in convincing many that implementing these ACA programs can make a positive difference on a community level in improving health care. To help reach consensus from both sides of the aisle, ACP Leadership Day was a good opportunity for practicing internists from around the country to tell their local stories, illustrating how federal policy impacts day to day practice on a micro-level. I hope that some of our messages were heard.