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Third Annual Alan and Sybil Edelstein Professionalism & Ethics in Medicine Lecture Tackles Genetic Testing 

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’80), and his sister Marcia Edelstein Herrmann, MD (CAMED’78). The lecture is named in honor of their parents. 

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’s (BMC) chief of medical genetics in pediatrics. This 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. 

“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,” said Hoffman. “We 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.” 

She said research has shown that most patients want to know all that is discovered by their genetic test. 

“We test for 150 or so hearing loss genes,” said panelist Margaret Kenna, MD (CAMED’79), MPH, director of clinical research in otolaryngology and communication enhancement at Boston Children’s 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. 

“What is the duty of the physician? Is the mother the patient, or the baby? These are very big and new challenges for us,” Kenna said. 

Panelist Daniel Faden, MD (CAMED’11), 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. 

“I’m a big believer in the potential for MCEDs to revolutionize cancer screening, but I think we’ve gotten a little ahead of ourselves,” 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. “That’s almost a million people you’d be telling had a cancer who actually don’t.” 

Erica Holland, MD, assistant professor of obstetrics & gynecology and BMC director of maternal and fetal medicine, discussed the perils of patients putting too much faith in genetic testing. 

“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,” said Holland, including the possibility that the placental DNA does not match the DNA of the fetus. 

Panelists said that surveys indicate that patients want to know what genetic tests reveal even if they are secondary in importance to other aspects of the medical examination and not the reason for the patient’s appointment. 

Holland said the prenatal genetic counseling team at BMC, led by Philip Connors, MS’14, MPH’20, CGC, assistant professor of obstetrics & gynecology, is working to reduce societal and educational barriers in communicating the risks and rewards of genetic testing. Connors creates videos explaining the test for patients awaiting their first-trimester ultrasounds. High-risk patients speak directly with a genetics counselor. 

Wendy Kuohung, MD, an associate professor of obstetrics & gynecology and director of reproductive endocrinology and infertility at BMC, spoke about the use of preimplantation genetic testing (PGT) in selecting embryos for transfer in the in vitro fertilization process. “There are cases where the provider may find the patient desire to use PGT ethically problematic,” Kuohung said. 

PGT-A is used in 40% of all in vitro fertilization cycles in the US, most frequently to select embryos with the normal number of chromosomes as opposed to those with missing or extra chromosomes that are more likely to result in miscarriage, cycle failure, or a baby with birth defects. Another PGT test looks for changes in chromosome structure, indicative of complex diseases presenting later in life like diabetes, cancer syndromes, and cardiovascular disease. 

“It isn’t as widely employed and is not as widely accepted,” said Kuohung, who also addressed the ethical dilemma inherent in choosing embryos based on their genetic predisposition to a disorder that does not manifest until adulthood. 

Choices are not always as straightforward as adhering to an ethical barometer. Kuohung cited the case of an older patient with diminished ovarian reserve whose only available embryo tested positive for genes that might lead to Down syndrome, but who requested the transfer of the embryo anyway. 

“Most fertility doctors will refuse to transfer the Down syndrome embryo due to the ethical mandate to do no harm, but they may be depriving that patient of ever having a pregnancy if that embryo is the only one the patient has,” said Kuohung, adding that while there is no right answer that applies to every patient, there are guiding principles to help providers and patients make decisions. 

She stressed that while patients have the right to reproduce and make decisions regarding their healthcare and treatments, at the same time, providers may exercise the freedom to grant or deny their services based on their own ethical principles. 

Panelist Kathleen Swenson, MS, MPH, CGC, a clinical associate professor of medical sciences & education and director of the master’s program in genetic counseling, pointed out that many of these issues preexisted new genetic technologies and involved a similar decision process. “Genetic counselors support patients, knowing they are resilient; that their emotions matter,” she said. 

“We help our patients understand and apply information to make decisions, manage the conditions, and adapt to the situation.”