At the core of the Genetic Dilemmas program is a one-hour videotape, presenting three representative cases:
- Case #1: Inherited Breast and Ovarian Cancer
- Case #2: Familial Adenomatous Polyposis
- Case #3: Cystic Fibrosis
Each case presentation includes comments from the patient(s), their families and their clinicians, as well as expert commentary from leading physicians, genetic specialists and bioethicists. Dr. Kevin Ferentz, Associate Professor & Residency Director, Department of Family Medicine, University of Maryland, hosts the program, providing a summary with key teaching points for each case. Following the cases, he moderates an interdisciplinary round-table discussion among the program faculty and others about the central issues raised in each case.
“In medical care in general, we go to physicians because we seek their recommendations and we often make our own decisions whether or not to follow them, but we look to our providers to make those recommendations. And in the genetic testing arena, because there are so many scientific unknowns and uncertainties, and a lack of data about the best ways for people to act on the information, we really believe it’s a very personal decision. And the process that allows people to make personal decisions is lengthy and foreign both to the provider and to the patient.”
Barbara Bowles Biesecker, MS, CGC
Genetic Counselor & Associate Investigator
Co-Director, Genetic Counseling Training Program
National Human Genome Research Institute, NIH
“If you really look at the people who have gone through genetic testing, most of them have been sophisticated women, with more than graduate level education. And so when we start talking about the general population at risk, how do we do this? How do we provide them with the information they need to make a decision and yet not overwhelm them to the point where they’re going to be paralyzed? That’s a big challenge.”
Funmi Olopade, MD
Director, Cancer Risk Clinic, University of Chicago Medical Center
“I think it really impacted on my brothers and sisters. And they were actually hit first. My parents and then my siblings all were asked to be tested. And they had to go through physical testing at that time. It would’ve been a lot easier to go for a blood test, because none of them have it.” Ann (patient)
“Ann makes the point in her comments that she has many siblings who were then offered the opportunity to find out if they had inherited the FAP in the family, and the only tool that was available to the providers at that point in time was pretty invasive. And now we’ve got a more simple tool, which is a blood test and she sort of facetiously says it would have been a lot easier for them. They might have been more willing to undergo a test if it just involved drawing a sample of blood. While that demonstrates a tremendous improvement in the new technologies, and sort of a window of what’s to come, it also brings up a reminder of how easy it might be to then shorten the amount of consent that would go into the process of talking to people about simply having a blood test done. And this is not an ordinary blood test. This is a blood test that would provide information that would have ramifications for a lot of people, including the children of all of her siblings.”
Barbara Bowles Biesecker, MS, CGC
Genetic Counselor & Associate Investigator
Co-Director, Genetic Counseling Training Program
National Human Genome Research Institute, NIH
“Plenty of problems which have their basis in DNA do not reveal themselves through an affected pedigree. And this is a perfect illustration, in the sense that it’s a new mutation. Obviously if you take the next three or four generations, you would find a pedigree that would tip you off. But when you’re dealing with a disease with frequent new mutations such as this or neurofibromatosis for example, you can’t be misled by the absence of an older generation with the disorder.”
Hilary Worthen, MD
Primary Care, Internal Medicine
Cambridge Family Health, Cambridge, MA
“My test results came back the first time negative, which was what I expected. I expected not to be a carrier for cystic fibrosis because of such a large family and it never showing up before. And so we were very happy. We thought, you know, whew! We got past that barrier, and now we can get on with the pregnancy.” Bill (patient)
“My understanding of what happens next was that during an ultrasound what’s called an echogenic bowel was identified on ultrasound, so there was a bright spot in the bowel that was seen on the ultrasound. And that can be an indication of one of several disorders. Cystic fibrosis is certainly one that comes to mind.”
Elinor Langfelder, MS
Genetic Counselor, CF Clinic, St. Vincent’s Hospital, NYC
“And so I said ‘But it can’t be cystic fibrosis – we’ve both been tested for it – and although I’m a carrier, Bill tested negative. So we can rule that out, right?” Christine (patient)
“Like any medical intervention, this has profound side effects. It has side effects in terms of insurance consequences, other kinds of work discrimination. It has consequences that are psychological side effects; people’s perceptions of their body, their perceptions of their family, their perceptions of their future, their perceptions of their dreams may all be transformed by what we are calling information. So I think we have to understand that information has profound side effects and incorporate that in our informed consent process.”
Larry Amsel, MD, MPH
Assistant Professor of Clinical Psychiatry College of Physicians & Surgeons
Columbia University
“I think part of our problem with genetics is that we’re the victim of our own success, that medicine has been so successful in the past generation or two. Most of the tests, when ordinary patients, ordinary people think of the word test, they think of something that will give a definitive answer, probably, and that there will be a treatment that will follow. I go in. I have a test. I have strep throat. The doctor gives me antibiotics, whatever it is, that’s the way most of our medical encounters with primary care tend to work. And so people often, I think, come in assuming that genetics works the same way as other tests do, and of course genetics is quite variable. Some of the tests are quite clear cut and predictive and others aren’t at all.”
Bruce Jennings, MA
Senior Research Scholar, The Hastings Center
“So if there is no treatment for many of the diseases that we discover, why do the testing in the first place?”
Kevin Ferentz, MD
Associate Professor & Residency Director
Department of Family Medicine, University of Maryland
“I think there’s a clear answer to that question. It’s very important to remember that different people benefit from different things. Some people benefit from knowledge, regardless of whether the knowledge is of a positive or negative test result.”
Erik Parens, PhD
Senior Research Scholar, The Hastings Center
“I’m not sure that we can entirely avoid the difficult question of how do we draw the line between a sort of non-judgmental and non-biased attitude, respecting the patient’s interpretation, respecting the patient’s choices; versus, on the other hand, something that I think is part and parcel of the ethical responsibility of all physicians. And that is to protect patients from misinterpretation, misinformation, harmful bad choices.”
Bruce Jennings, MA
Senior Research Scholar, The Hastings Center
“I agree with you. I think the most important role that I think a physician can play is really that of being actively engaged in the process with a patient. As much as we like to talk about autonomy with regards to genetic testing, I think we really have to be in it for the long run. I have found that the patients really want you to provide more than just the informed consent. They want you to be the resource person that they can turn to”
Funmi Olopade, MD
Director, Cancer Risk Clinic, University of Chicago Medical Center
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