Personalized Medicine – What Physicians Need to Know About a Growing Malpractice Risk

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Personalized Medicine – What Physicians Need to Know About a Growing Malpractice Risk

According to the FDA, personalized medicine involves, “using genetic or other biomarker information to make treatment decisions about patients.”1 Over the past fifteen years, the number of disorders, for which genetic testing is available, has increased nearly 500%.2 Data from the National Human Genome Research Institute indicates that the rate at which our genetic sequencing ability is advancing is outpacing Moore’s law, which states that computational processing power doubles every 2 years. To put it another way, in 2001 it cost $100 million to sequence the human genome, while in 2015 the cost of whole genome sequencing was down to about $2500, with the geneticist Dr. Raymond McCauley predicting, “after 2020 it will be cheaper to sequence a genome than to flush the toilet”3. Although McCauley’s prediction may be dramatic, the reality is that the rapid transition of genetic testing’s affordability is increasing the demand for “routine” genetic testing in healthcare.

In a 2013 article published in the journal, Genetics in Medicine, the author described what he referred to as an “Angelina effect”, noting that Angelina Jolie’s revelation that she had undergone prophylactic bilateral mastectomies upon discovering she carried the BRCA gene, marked an inflection point for increased public interest in preventive genetic testing.4


Figure 1. Frequency of BRCA as a google search term. The frequency spike in

May 2013, coincides with Angelina Jolie’s announcement that she was BRCA positive.  

Current data supports that there is a growing public interest in genetic testing. The direct-to-consumer genetic testing market is growing by double digits. In a survey of patient and physician attitudes towards genetic testing, 88% of patients were interested in hearing from their physicians about genetic risks that could affect their health, even if their visit was scheduled for a different reason. In the same survey, only 25% of physicians felt confident in answering patient questions about the impact of genetic testing on disease susceptibility. Another study found similar results within an academic setting, observing:

“… there is a gap between what patients expect and what primary care providers feel they are adequately prepared to provide in terms of genetic testing services.”

Because of the obvious connection between genetic testing and healthcare, patients expect their physician’s to be knowledgeable in genetic testing and to advise them whenever testing is indicated.

What are the risk implications for physicians?

Consider the following case examples:

  • A 44 year old woman with a family history significant for breast cancer per her maternal grandmother and ovarian cancer per her mother, was managed with yearly breast imaging by her gynecologist. Nearly 5 years after initiating screening, the woman discovered a breast lump and was subsequently found to have breast cancer. Despite treatment, the patient died from complications related to breast cancer. The patient’s husband brought suit against the radiologist and the gynecologist. In addition to a missed finding on the last mammography, the plaintiff alleged that the gynecologist deprived the deceased of the opportunity to prevent breast cancer through BRCA testing and prophylactic mastectomies. The jury found fault on the part of both the radiologist and the gynecologist and awarded the family $4 million.5
  • A woman of Asian ancestry sued her provider after developing Stevens-Johnson syndrome following a prescription of carbamazepine. The woman claimed that the physician should have recommended pharmacogenetics testing given that she was from a population at high risk for developing an adverse reaction from the prescribed medication. In support of her allegation, the plaintiff attorney produced the FDA approved medication insert for carbamazepine which states the following warning: “PATIENTS WITH ANCESTRY IN GENETICALLY AT-RISK POPULATIONS SHOULD BE SCREENED FOR THE PRESENCE OF HLA-B*1502 PRIOR TO INITIATING TREATMENT WITH CARBAMAZEPINE”.6
  • A Connecticut woman developed ovarian cancer and sued her physician alleging that her significant family history of breast cancer should have prompted the doctor to evaluate her genetic risks for breast and ovarian cancer. The patient was awarded $4 million.7

It is difficult to predict how genetic testing will impact physician liability risk but the potential for claims of negligence is growing. According to current data, genetic conditions are responsible for over 35% of pediatric medical conditions. Approximately 30% of adults with medical conditions have family members with the same condition and 10% have a family inheritance where a single gene explains the etiology.7 In the US alone, approximately 10 million women meet criteria for BRCA testing, but have not received testing and an estimated 500,000 of this group carries a pathogenic mutation.9 In a study published in the Journal of the American Medical Association (JAMA) of 2,529 women, only 54% of women at high risk for a BRCA mutation had received genetic testing. Another important component of the study found that even when patients do receive genetic testing, they often do not receive appropriate genetic counseling despite having a desire to receive counseling. In the JAMA study, 40% of high risk women who received genetic screening did not receive genetic counseling.

What can physicians do to mitigate the risk?

Recommendations

  1. Update patients’ family histories on a regular basis.

Many times, the initial visit is the point of contact where physicians obtain a family history on their patients. Unfortunately, as time goes by, patients may have new developments within their family history which are not updated in the chart because the physician does not ask at follow-up visits and the patient does not attempt to inform the doctor.

  • Risk Tip

Schedule periodic intervals for updating the family history, such as at annual exams.

  • Risk Tip

Instruct patients as to the relevance of updating you with any changes in the health status of family members

  1. Consider genetic testing to be a preventative health service in appropriately selected patients10
  • BRCA testing is considered a preventive service under the Affordable Care Act, allowing patients to receive testing with no out-of-pocket expenses.
  • Medicare covers affected patients for genetic testing as long as they have a qualifying history.
  • 97% of insurers cover genetic screening.
  1. Refer patients to genetic counseling11

It is typically advised that genetic counseling be performed prior to, or in coordination with, genetic testing. For busy clinicians, the process of reviewing a three-generation family history and counseling patients on what genetic testing entails and clarifying its limitations can be a challenge. Because of the complexity of genetics and the pace at which the science is changing, genetic counseling referrals can ease the burden on busy clinicians while ensuring that patients are receiving the most up-to-date guidance.   Referrals to genetic counseling can also be useful when patients present to the office asking the physician to review with them, the results of a direct-to-consumer genetic testing report. Many of these direct-to-consumer genetic products have not been appropriately vetted or produce results of questionable significance and it may require a specialist in genetic medicine to explain and qualify the results to the patient.

  • Risk Tip

Ensure that all discussions with patients and referrals for testing and/or counseling are documented in the record. Patient refusals and discussions of risks benefits and alternatives should be well-documented.

  • Risk Tip

It is important that the referring physician receives a report from the consulting specialist and that it is entered into the patient’s record.

  1. Use genetic testing as your next ‘deliberate practice’ project12

The world-renowned diagnostician, Dr. Gurpreet Dhaliwal recommends deliberate practice as an essential component for physician acquisition and maintenance of clinical expertise. Deliberate practice is a strategy where physicians identify a specific subject or skill they wish to improve and develop a structured improvement plan.

A good place to start might be with JAMA’s video and essay series entitled Genomics and Precision Health. https://sites.jamanetwork.com/genetics/

According to the JAMA website:

JAMA is publishing a series of essays to explain the state of the field, its concepts, and technologies to help clinicians understand the latest developments in precision medicine so they can make the most informed decisions for their patients.”13

 

References

  1. Personalized medicine: A biological approach to patient treatment. https://www.fda.gov/Drugs/NewsEvents/ucm325475.htm Page Last Updated: 02/26/2016. Accessed 3/21/2018
  2. Callie Diamonstein, et al. Physicians’ Awareness and Utilization of Genetic Services in Texas. Journal of Genetic Counseling December 2017 DOI 10.1007/s10897-017-0199-z
  3. Kris Wetterstrand. DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP). National Human Genome Research Institute Website. Last Updated: October 31, 2017. Accessed: 3/21/2018
  4. Gary E. Marchant, Ph.D., J.D. and Rachel A. Lindor, J.D., M.D. Personalized Medicine and Genetic Malpractice Genet Med. 2013 Dec; 15(12): 921–922
  5. Victor R Cotton MD JD, Douglas H Kirkpatrick MD. Failure to recommend genetic testing in breast cancer Is this the next wave of medical professional liability lawsuits? Contemporary OBGYN. June 01, 2017
  6. Gary E. Marchant, Ph.D., J.D. and Rachel A. Lindor, J.D., M.D. Personalized Medicine and Genetic Malpractice Genet Med. 2013 Dec; 15(12): 921–922.
  7. Benjamin A Raby MD, MPH. Genetic Testing. UpToDate. Accessed March 20, 2018.
  8. Benjamin A Raby MD, MPH. Genetic Testing. UpToDate. Accessed March 20, 2018.
  9. Victor Cotton MD, JD, and Holly J. Pederson MD, Potential Medical Professional Liability Issues in Genetic Testing. PIAA Webinar February 21, 2018.
  10. Victor Cotton MD, JD, and Holly J. Pederson MD, Potential Medical Professional Liability Issues in Genetic Testing. PIAA Webinar February 21, 2018.
  11. Benjamin A Raby MD, MPH. Genetic Testing. UpToDate. Accessed March 20, 2018.
  12. Gurpreet Dhaliwal, MD, Jonathan Ilgen, MD, MCR. Clinical Reasoning: Talk the Talk or Just Walk the Walk? Journal of Graduate Medical Education, May 1, 2016.273-5

 

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