Interview and article by Tatsiana “Tanya” Verstak*
Part 3: Utilizing genetic information in clinical care
For the most part, are people trusting genetic information and do they want to have this testing done?
I think so. Probably the big concern in our field is that I don’t think anyone can say with any confidence that we know what the long-term consequence of genetic testing are going to be, we are just not there yet. There are certain laws against genetic discrimination, such as the law passed in May, 2008 called GINA: The Genetic Information Non-Discrimination Act that prohibits health insurance companies and employees with some caveats from treating someone differently if they were to get their genetic information. For health insurance companies it is particularly important. For the example that I mentioned with retinal blastoma, if we find out it is hereditary there is an indication to screen the child with brain MRIs periodically until the age of 5 because of the concern for a tumor developing in the brain called pineal blastoma and an insurance company is going to want to see some justification for why you are ordering these brain MRIs so it’s good to have those protections.
But, we don’t have those same protections when it comes to long-term care, disability, or life insurance. That’s a big factor when you’re talking about testing children. Now the big difference is when you are talking about testing a child who has cancer as a survivor of cancer: that’s already going to be driving up their premiums, so whether or not adding a genetic diagnosis changes that it is hard to say. It becomes a very different discussion when you are talking about testing an asymptomatic parent or sibling for that. This is all stuff we talk about in our clinic, we provide written material and resources but for the most part families want to know [their genetic results]. I give a brief run down similar to what I just provided you and I usually ask the question, “Tell me right now if any of what I said gives you a pause about wanting to order test today.” It is very rare that anyone says “yes, I would like to take some time to consider.” It happens, but it’s not common.
I think that when I talk with other genetics professionals, I have only been working here almost three years now, so I’m still relatively new to the field-but when I talk to people who have been in the field for generations and know much more than me, I think that is the emphasis. Because the truth is, when we think about privacy and confidentiality, everyone’s genetic code is unique to them. If that information is out there in the universe, in theory, that could be somehow connected, even if it is de-identified, could come back to you. There have been some studies at MIT, where folks have been able to at least infer someone’s last name if they saw that information.
With that, I think the focus is becoming lets’ not even pretend that this information could not somehow be tied back to the person, and there couldn’t be consequences, but let’s work on making it so that there are no legal or discriminatory consequences of it. So I have very high hopes and expectations that’s going to continue to become the trend, that we are not in a world nor are we going towards a world where people are going to be discriminates against because of their genetic information. That’s all theory, that’s all discussions, and I think that there are unknowns. But usually families they want to know [their genetic information].
Do you think that eventually every hospital will be like St. Jude and genetically screen their patients?
So most hospitals are; going back to the retinal blastoma example, most hospitals with a child with retinal blastoma are offering genetic testing and most families do take them up on that. So that’s not unique to this institution. What is unique about this institution is that a part of St. Jude hospital’s mission and motto is that we do not ever send a hospital bill to a family; we do not have to worry about whether or not insurance is going to cover a genetic test. We get to offer whatever testing we think is most warranted, and whether or not the family’s insurance will or will not cover it do not factor into our decision. That can be a hold up at other hospitals, whether or not insurance will cover for a test. But usually insurances do cover a test for retinal blastoma for a child who has retinal blastoma.
What do you think about the future of personalized medicine?
I think that the trend is we are going to a place of having more protection and really moving into an era where we won’t treat people differently based on their genetic information, but some of that is not yet legal. The other thing, this is a very US-focused conversation, and at St. Jude we have families from all over the world, and so when I talk to them about the potential of genetic discrimination, these laws don’t necessarily exist anywhere else.
So that’s always a factor that I want families to consider, and it’s not always easy to figure out necessarily what the genetic discrimination protections are for a family who’s from Vietnam, I don’t know. There are a couple avenues I can take to try to learn about but by in large when I look into that I have not gotten satisfactory responses to where I feel that I can say too much. It is not that discrimination is happening, but it’s also not like the protections are there. That’s going to develop over time.
Are any other challenges to implement personalized medicine as a common part of clinical care?
It depends on what we’re talking about with concept of personalized medicine. So for the example I gave for the TP53 gene in Li-Fraumeni Syndrome, we give total body MRIs. In a way that is personalized medicine because we are giving you care based on the genetic information that we know about you. That is my experience in the Cancer Predisposition realm. Personalized medicine also includes testing people’s responses to Codeine and Warfarin and all of that. I think we are still a really long way from anyone getting their genome sequenced and necessarily having a particular plan for them about what they do and do not need to do, because a lot of this is still very broadly unknown.
The example I will give is the pesky gene MTHFR, which is something that the national medical professional genetic groups have consistently issued guidelines saying that there is no clinical indication to implement testing for this gene yet it still gets offered all the time. The thought is, if you have certain changes in this MTHFR gene that you can be at higher risk to form clots and you can have a higher chance of developing a substance called homo-cysteine in your body. But there is no solid science to back it up at all. Just last week, I had another family come in and the grandmother had just been tested for this. She had a common polymorphism in this gene that’s present in like 20-40% percent of Caucasian individuals and I do not know, could it be a factor for some of her health problems? Maybe, maybe not. We do not know enough about how genetic changes interact with other genetic changes in the body.
So I am not saying that it is insignificant, but it is not something that anyone can hang their hat on and say that this is causing this. It is more likely this concept of multi-factorial inheritance where you have multiple genetic changes all interacting together and with your environmental exposures. It is the same thing with Type 2 Diabetes and Osteoarthritis, all these things where it’s not this single gene inheritance like what I am talking about every day in clinic. That is personalized medicine, to think where there’s interest and where the field is generally moving is to learn about genetic changes in your body and to ideally change your lifestyle to best optimize your overall health but we still aren’t there to know exactly how to call certain things. And what does it mean to someone to say they have a 40% risk to develop Type 2 Diabetes as opposed to 20%? What does that mean? I mean the risk is there, and knowing that it is higher, what does someone do with that?
So do you still think that there are challenges to implement the information that we get? For instance, we can sequence the whole genome, but how do we read that?
*Tatsiana “Tanya” Verstak, M.S. is a Contributor to Clinical Research Currents.
She is a Pharm.D. Student at the University of Tennessee Health Science Center (UTHSC), a Research Associate at the UTHSC Office of Clinical Research, and a Pharmacy Intern at St. Jude Children’s Research Hospital. firstname.lastname@example.org
Citation for this article: Verstak, Tatsiana. “The present and future of genetic counseling: an interview with Emily Quinn, a certified genetic counselor at St. Jude Children’s Research Hospital.” Clinical Research Currents March 13, 2017. http://clinicalresearchcurrents.com