Q&A: Navigating the Psychological and Ethical Aspects of Genetic Counseling
Jill Fischer, the director of the new Genetic Counseling Graduate Program at Kean, joined the University’s New Jersey Center for Science, Technology and Mathematics (NJCSTM) after working as a genetic counselor for 26 years. She spearheaded the creation of the new Master of Science program in genetic counseling, which received accreditation this fall and will welcome its first class in Fall 2020.
Q. What is genetic counseling?
Genetic counseling is the process of assisting people to understand and adapt to the medical, psychological and familial aspects of genetic disorders. Genetic counselors are medical professionals, trained in complex sciences like genetics and genomics, as well as counseling and ethics. The demand for genetic counselors is increasing, spurred by changes in regulation of genetic testing; reduced costs of said testing; expansion of research in the genetic basis of disease; and increasing requirements for pre-test counseling by some insurance companies. All of this requires a medical professional who understands the science and can navigate the psychological, ethical and legal aspects, thus the increase in demand for genetic counselors.
Q. What are some of the diseases or conditions that can be discovered through genetic counseling?
In the maternal-fetal medicine realm, we do a lot of preconception testing of the couple. We can test for more than 500 conditions. In order for a child to be at risk for most of these conditions, both the mother and father have to have the gene mutation. For example, if we find out that both parents are carriers for cystic fibrosis or Tay-Sachs disease, then the risk of having a child with that disease is 25 percent. In pediatrics, a child may have developmental delay and look different from family members, and is referred for an evaluation. We can also do genetic testing for adult-onset disorders such as Huntington disease, various cardiogenetic disorders and many types of cancer.
Q. How do people feel when they receive complex genetic results?
These may be the worst situations they’re ever going to face in their lives, and you want to be there to make it a little bit easier for them. I help patients go through the process. I always say, “Though I’m not in your position, these are the questions I’d be asking.” A lot of the times it’s just the patient needing to hear someone is able to work through that with them. For example, I supported a patient through her pregnancy after it was determined that the baby had a lethal condition. The baby died after 62 days in the NICU. A year later, I was in the delivery room with the same patient, and she had a healthy girl.
Q. What are some of the ethical issues surrounding genetic counseling, and how do counselors address them?
There are many ethical issues surrounding genetic testing such as testing of a pregnancy or minor for an adult-onset disorder, or presymptomatic testing of an adult. The genetic counselor understands the guidelines for various types of genetic testing and guides the patient through these issues. You have the broad brushstrokes of public policy, then you have the interactions with the patient. Genetic counseling is a very different type of medicine. We are non-directive and focused on patient autonomy, that is, we’re focused on listening to the patient’s opinion and helping them make an informed decision. We provide them information to assess their medical situation, and take action based on their priorities and personal beliefs, their religious perspective or even their own gut. Regarding decision-making, I tell them, “sometimes it’s not an intellectual thing…sometimes it’s not a matter of the risk factor, it’s a matter of, 'am I comfortable with that or not?' ”
A person doesn’t have to go through embryo or pregnancy testing. They don’t have to go through an IVF cycle. We get to know the patient and what they’re thinking. If a baby is diagnosed with disease X, for example, do they continue the pregnancy or not? We support them in that either way.
Q. How do you respond to critics who say genetic testing will lead to designer babies or be misused?
Designer babies don’t exist. What we do now with embryo testing is look for single gene disorders, where one or two mutations cause a specific disorder. If the embryo has the disease, we do not transfer it to the uterus. This is disease prevention.
Also, many traits are polygenic meaning many genes are involved. We simply cannot test for all of this. At this point, we’re not even actively able to engineer the genes of the embryos. I can’t imagine a “designer baby” will happen in my lifetime.