{"id":130339,"date":"2025-02-04T17:33:08","date_gmt":"2025-02-04T22:33:08","guid":{"rendered":"https:\/\/www.bumc.bu.edu\/camed\/?post_type=bu-article&p=130339"},"modified":"2025-04-18T12:33:56","modified_gmt":"2025-04-18T16:33:56","slug":"third-annual-alan-and-sybil-edelstein-professionalism-ethics-in-medicine-lecture-tackles-genetic-testing","status":"publish","type":"bu-article","link":"https:\/\/www.bumc.bu.edu\/camed\/medicine\/articles\/2025\/third-annual-alan-and-sybil-edelstein-professionalism-ethics-in-medicine-lecture-tackles-genetic-testing\/","title":{"rendered":"Third Annual Alan and Sybil Edelstein Professionalism & Ethics in Medicine Lecture Tackles Genetic Testing"},"content":{"rendered":"\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\tThird Annual Alan and Sybil Edelstein Professionalism & Ethics in Medicine Lecture Tackles Genetic Testing\u00a0\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/h1>\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t<\/div>\n\n\t\t\t\t<\/div>\n\n\t\t\t\n\t\t<\/div>\n\n\t\t\n\t<\/div>\n\n\t\n
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On March 25, panelists at the Third Annual Alan and Sybil Edelstein Professionalism & Ethics in Medicine Lecture described the ethical maze of laws, professional and personal responsibility, and societal values swirling around the rapidly evolving field of genetic testing. More than 100 viewers attended the online event, hosted by David Edelstein, MD (CAMED\u201980), and his sister Marcia Edelstein Herrmann, MD (CAMED\u201978). The lecture is named in honor of their parents. <\/p>\n\n\n\n

Genetics has evolved from single-gene testing to exome and genome sequencing, which looks at all the DNA of our genetic code, said panelist Jodi Hoffman, MD, associate professor of pediatrics and Boston Medical Center\u2019s (BMC) chief of medical genetics in pediatrics. This can lead to unexpected findings\u2014like the discovery of a debilitating or fatal condition, or other information unrelated to the original reason for the testing\u2014resulting in ethical dilemmas for patients and physicians. <\/p>\n\n\n\n

\u201cWhen we practice genetics, there are some additional principles that we have to keep in mind: informed consent, confidentiality, the duty to warn or inform, as well as fidelity or veracity,\u201d said Hoffman. \u201cWe want to make sure that when people have genetic testing, they have the full capacity to understand what they are being offered, exactly what sort of testing we will be doing, and that they are able to choose to do this testing or not to do this testing.\u201d <\/p>\n\n\n\n

She said research has shown that most patients want to know all that is discovered by their genetic test. <\/p>\n\n\n\n

\u201cWe test for 150 or so hearing loss genes,\u201d said panelist Margaret Kenna, MD (CAMED\u201979), MPH, director of clinical research in otolaryngology and communication enhancement at Boston Children\u2019s Hospital and professor of otolaryngology-head and neck surgery at Harvard Medical School. Kenna described an example of an ethical dilemma: the possibility that a deaf couple would use genetic testing to select for a deaf child. <\/p>\n\n\n\n

\u201cWhat is the duty of the physician? Is the mother the patient, or the baby? These are very big and new challenges for us,\u201d Kenna said. <\/p>\n\n\n\n

Panelist Daniel Faden, MD (CAMED\u201911), FACS, a head and neck surgical oncologist and scientist who practices at BMC and Mass Eye and Ear, and an assistant professor of otolaryngology-head and neck surgery at Harvard Medical School, urged caution in marketing genetic testing to the public as screenings for cancers, known as MultiCancer Early Detection (MCED) tests. He worried about the balance between causing patient anxiety and the benefits of catching a cancer early and treating it. <\/p>\n\n\n\n

\u201cI\u2019m a big believer in the potential for MCEDs to revolutionize cancer screening, but I think we\u2019ve gotten a little ahead of ourselves,\u201d he said, pointing out that in the US, in the age group targeted for this testing, even a 1% inaccuracy rate yields nearly a million false positives. \u201cThat\u2019s almost a million people you\u2019d be telling had a cancer who actually don\u2019t.\u201d <\/p>\n\n\n\n

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As exciting as cell-free DNA is as an opportunity to learn information about a pregnancy without invasive testing like amniocentesis that uses a needle to withdraw a sample of amniotic fluid, there are many challenges to this technology<\/div>