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Panelist Jodi Hoffman<\/a>, MD, associate professor of pediatrics and Boston Medical Center\u2019s chief of medical genetics in pediatrics, noted the principles of ethics that apply to all branches of medicine: beneficence, non-maleficence, autonomy and justice.<\/p>\n \u201cBut when 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 she said. \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 Genetics has evolved from single-gene testing to exome and genome sequencing, which looks at all the DNA of our genetic code, said Hoffman. That can lead to unexpected findings, like the discovery of a debilitating or fatal condition, or other information unrelated to the original reason for the testing, resulting in ethical dilemmas for patients and physicians.<\/p>\n \u201cIf we find out that a child is not related to the man who thinks he is the father, do we let them know, if that was not the question being asked?\u201d said Hoffman. She said research has shown that most patients want to know all that is discovered by their genetic test.<\/p>\n Childhood hearing loss has a strong genetic component, said panelist Margaret Kenna, MD\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.<\/p>\n \u201cWe test for 150 or so hearing loss genes,\u201d she said. But that testing can have other implications in addition to a diagnosis. Kenna described cases where genetic testing raised ethical questions for providers, including in vitro clients selecting for sex in embryos even when it entailed an inherited gene that likely would result in a child with significant hearing loss; the possibility that a deaf couple would use genetic testing to select for a deaf child; a genetic test to determine whether a prospective bride carries an inherited hearing loss gene.<\/p>\n \u201cWhat is the duty of the physician? Is the mother the patient, or the baby?\u2026What is the outcome of genetic testing on the marriage of this woman?\u201d Kenna asked. \u201cThese are very big and new challenges for us.\u201d<\/p>\n Panelist Daniel Faden, MD\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 about genetic testing marketed to the public as screenings for cancers, known as Multi Cancer 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 \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.<\/p>\n In the U.S. in the age group targeted for this testing even a 1% inaccuracy rate yields nearly a million false positives, said Faden. \u201cThat\u2019s almost a million people you\u2019d be telling had a cancer who actually don\u2019t have one.\u201d<\/p>\n Panelist Erica Holland<\/a>, MD, assistant professor of obstetrics & gynecology and BMC director of maternal and fetal medicine, talked about the perils of patients putting too much faith in genetic testing. Holland described the case of a 30-year-old patient whose provider suggested a prenatal cell-free DNA test. This is a blood test that check\u2019s the fetus DNA, circulating in the mother\u2019s blood, for conditions, like Down syndrome.<\/p>\n When DNA test results revealed minimal risk, the patient decided to skip her first trimester ultrasound. But, at her 20-week anatomical exam, physicians found that her baby had a congenital diaphragmatic hernia, in which the abdominal contents protrude into the chest cavity, a potentially fatal condition.<\/p>\n \u201cAs 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\u2026there are many challenges to this technology,\u201d said Holland, including the possibility that the placental DNA does not match the DNA of the fetus.<\/p>\n These genetic tests also can reveal other conditions and raise ethical issues for the provider on what they should share with the patient, although Holland pointed out that a survey of patients whose cell-free DNA tests uncovered maternal cancer still viewed the test\u2019s ability to detect it as a benefit and wanted those results communicated to them.<\/p>\n Holland said her team at BMC is working to reduce societal and educational barriers in communicating the risks and rewards of genetic testing. Holland said the prenatal genetic counseling team at BMC, led by Philip Connors<\/a> MS\u201914, MPH, CGC, an assistant professor of obstetrics & gynecology, is working to reduce societal and educational barriers in communicating the risks and rewards of genetic testing. Patients awaiting their first trimester ultrasounds are shown videos, created by Connors, explaining the test. High-risk patients speak directly with a genetics counselor.<\/p>\n![\"Head](\"\/camed\/files\/2024\/04\/Margaret-kenna-e1712241600615.jpg\")
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