Just a decade ago, genetic tests were expensive and uncommon; though they were exciting, and indicative of a promising future, they were not attainable for the average American. Now, however, a test for the BRCA1 mutation is available for as little as $250, and an individual’s entire genome can be sequenced for just $1,000.[1] Advancements in the field of genetics have created great opportunities for early diagnosis and more personalized treatments, saving both lives and money.[2] However, innovation is almost always accompanied by complicated moral quandaries; how does genetic testing affect the responsibilities doctors hold to their patients and their families? This post will explore two important ethical questions to help you better understand the complexities that come with diagnosing cancer in the modern era.
Do physicians have a duty to warn a patient’s relatives about possible genetic risks?
Patient autonomy and confidentiality are key components of the pact made between patients and physicians. However, the ethical obligation to respect the privacy of an individual can be at odds with a physician’s fear of potential liabilities resulting from their failure to notify an at-risk relative.[3] If a physician issues a genetic test for a patient, and the results signify an increased risk of cancer, the physician will likely feel the need to inform other family members that face the same risk. Unfortunately, a survey of geneticists found that 60% of respondents had cared for a patient who didn’t want to inform relatives about their potential genetic risk of cancer due to pre-existing estrangement, fear of blame, or fear of insurance discrimination.[4] Family members who are not informed miss out on screening and intervention that can be life-saving, so doesn’t a physician have the duty to inform them?
Though court verdicts vary, the American Medical Association and the American Society of Clinical Oncology emphasize the overriding importance of patient confidentiality but also the physician’s responsibility to educate patients about familial cancer risk and encourage intervention for at-risk relatives.[5] In order to best serve patients and their families, physicians should raise the issue of disclosure in a deliberate but not coercive manner, and document the patient’s willingness and ability to identify at-risk relatives and provide those relatives with specific referrals to cancer genetic resources.[6]
Do doctors have an obligation to wait for genetic test results before recommending surgery?
Though genetic testing to detect potentially harmful mutations is now easy and fairly inexpensive, surveys of surgeons and patients reveal that many individuals undergo definitive surgery without testing or before test results come in.[7] In one study, one-third of surgeons said they rarely referred patients for genetic counseling, and 17% of high-volume surgeons and 38% of lower-volume surgeons said they never delayed surgery for genetic test results at all.[8] However, as Dr. Allison Kurian of Stanford University School of Medicine describes, “Effective genetic testing requires clinicians to assess pretest risk, counsel patients on testing implications […] and develop an appropriate management plan […] genetic tests are often desired to inform surgical decision making.”[9] Patients may wish for immediate surgery, but without the proper tests, they face potentially suboptimal care. Though a surgeon should honor a patient’s wishes, and recognize that each case is different, it is crucial that they explain and advise about the benefits of waiting for genetic test results and reassure patients that delaying surgery for a few weeks will in no way affect survival or risk of recurrence.[10]
During the first six months after actress Angelina Jolie released the story of undergoing risk-reducing bilateral mastectomy for being a BRCA1 mutation carrier, referral for genetic counseling rose by 90%, and the number of BRCA1/2 carriers identified increased by 110%.[11] Encouragement for genetic counseling for patients as well as their relatives needs to be pushed by more than just celebrities; physicians and surgeons need to educate themselves on how to best decrease cancer risks while keeping in mind the ethical complexities that come with such a diagnosis.
[1] Farr, Christina, “If You Want Life Insurance, Think Twice Before Getting A Genetic Test,” Fast Company, Feb. 17, 2016, https://www.fastcompany.com/3055710/if-you-want-life-insurance-think-twice-before-getting-genetic-testing
[2] Ibid
[3] Marquez-Homberg, Marcela, “Genetic Testing in Patients With Hereditary Cancer Risk; Legal, Social, and Ethical Considerations,” Research Gate, May 2, 2014, https://www.researchgate.net/publication/253171073_Genetic_Testing_in_Patients_With_Hereditary_Cancer_Risk_Legal_Social_and_Ethical_Considerations
[4] Storm, Courtney, Rinki Agarwal, and Kenneth Offit, “Ethical and Legal Implications of Cancer Genetic Testing: Do Physicians Have a Duty to Warn Patients’ Relatives About Possible Genetic Risks?” NCBI.gov, Sep. 2008, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2794026/
[5] Ibid
[6] Ibid
[7] Minerd, Jeff, “Genetic Testing Underutilized in Early Breast Cancer,” MedPage Today, July 10, 2017, https://www.medpagetoday.com/HematologyOncology/BreastCancer/66522?xid=nl_mpt_DHE_2017-07-11&eun=g438558d0r&pos=0
[8] Ibid
[9] Ibid
[10] Ibid
[11] Ahn, Soojin and Elisa R. Port, “Genetic Testing in Patients With Newly Diagnosed Breast Cancer: Room for Improvement,” Journal of Clinical Oncology, July 2017, http://ascopubs.org/doi/full/10.1200/JCO.2017.72.8816