Demand for genetic testing, particularly for use in healthcare, has soared in recent years. This trend has highlighted that one group of people is essential to a successful genetic testing industry: Genetic Counselors. We chat to Gillian Hooker, President of the National Society of Genetic Counselors to learn more about their role in the industry and the importance of genetic testing.
Could you tell us a bit more about the role that The National Society of Genetic Counselors plays?
The National Society of Genetic Counselors is a 40-year-old organization whose role is to advocate for the profession of Genetic Counseling, to build a community for Genetic Counselors and to educate and continue to invest in the growth of the profession as well as the growth of the individuals within the profession. It is an optional association that Genetic Counselors can join, and we have been very excited to maintain a high membership rate among counselors primarily in the United States but also with international members. Of the Genetic Counselors who are certified to practice in the United States, currently about 80% are members of NSGC. We have an incredibly engaged group of volunteers as well with over 1,000 of our Genetic Counselors actively engaged in some way in the organization.
What is the importance of genetic counseling in the genetic testing industry?
The mission of Genetic Counselors is to help people understand and adapt to the genetic contributions to disease. Testing may be involved, but isn’t always. People may learn about the genetic aspects of diseases either in their family or in themselves around medical diagnoses, after conversations with family members, and sometimes when someone has a genetic test result. Genetic Counselors may help prior to taking a genetic test to help look at family history, help understand whether testing might be useful and help identify the tests that are most likely to be useful. They can help individuals and families really understand upfront what people are getting into and what the different implications of those tests might be.
Genetic Counselors also help people after testing. Not everybody who is going to have a genetic test needs to see a genetic counselor first, some people know exactly which tests they are going to have, they understand the test and may not have concerns about it. Then, when the results come back, they may have questions or concerns, things they have a hard time understanding or struggling to cope with, and they may seek out genetic counseling at that point. This could be right after they get genetic testing or could be years down the line when their kids grow up and start to have questions or other family members, or something changes about their life where they suddenly need to think about their genetics a little differently. It is really a profession that can help people at many different points throughout the lifespan.
Have you seen an increase in demand with people in their personal capacity that are more interested in learning more about their genes and related health aspects?
I think we have seen a rising demand for genetic tests. Increasingly, people are using genetic tests to learn about themselves to receive information that may change the way they manage their health and also, quite often, to learn about ancestry. On the genetic counseling side, we see more and more people wanting to find someone to talk to who can tell them about the tests and the information in them and help them take scientific information and incorporate it into their real life.
What kind of information can be discovered through genetic testing and how could this change the way that people live?
The first distinction that I would make is whether they a healthy person just looking to learn and explore their genes or if there is a specific disease at question – do they have a personal diagnosis or a diagnosis within their family that they are seeking to understand. For those doing it on the exploration side, mainly tests can tell them about health-related risks and about ancestry. Often, people are drawn in my a desire to satisfy their curiosity or finding personal value in learning and understanding themselves and their biology. On the clinical side, it is much more pragmatic about medical treatment, seeking to find the right treatments, or to understand what my next steps might be medically-speaking; how often should I be screening for disease – these very specific medical actions that can be tied to genetic tests and they are more often prompted by something happening in the family.
Genetic counselors are practicing across many areas of healthcare. Many practice in the prenatal sphere, where you are talking to parents or prospective parents about conditions that babies might be born with or that might run in the family. Many practice in cancer genetics, where patients are looking to understand the causes, questioning whether family members may get cancer, whether there things that we understand genetically about a type of cancer that might lead to a particular drug treatment. Cardiology is another area that is really increasing. If patients have had family members that have died suddenly of cardiac arrest often there are genetic reasons for that and there are things that people can do to screen for that. Neurology is also a growing area, understanding the root causes of dementia and it’s also an area where there is an increase of clinical trials, motivating many people to have testing who might not have before. Across the spectrum of rare genetic diseases, there are a lot of people that get diagnosed with things they have never heard of and are seeking to understand, to adapt, to find other families and come to genetic counseling for help with all of these.
What are some of the biggest concern or risks you see with direct-to-consumer genetic tests and the results that are provided to consumers?
Across the landscape of currently available Direct-to-consumer tests there is variable quality. There are some direct to consumer tests that have invested heavily in quality and they continue to keep up to date with the latest science, and then there are some that may not have made that level of investment. It can be hard to make the distinctions in the test, to know this is a high-quality test or this is a test where I may want to take the results with a grain of salt. Even among the high quality tests, the other thing that may be hard to parse is comprehensiveness, for example does this test for everything that is known to be associated with breast cancer or only some aspects? If nothing is found am I in the clear? And in most cases the answer is probably not. The information supporting genetic testing is evolving and there is more information coming out all the time. It is really important to know what the limitations of any given test that one might take, and also to feel assured that if you do select a test that it is one that is based on good science.
Another concern that people should be thinking about is privacy. The labs really differ in their privacy policy and what they do with the data from the test, some have a lot of protection and don’t share the data with anyone else, others are actively engaged in research and may share data for the purposes of research and drug development. Anyone considering a test should take a moment to think about your own personal privacy preferences are.
It is also important to consider that information from these tests may tell you information about your family as well, since you share DNA with your family. You might learn about family relationships or surprises about family members that you did not know you had. You could learn health related information that may not only guide your health, but possibly have information for family members. It can lead to some conversations that are difficult or very critical for some families, but it is important to know upfront that is a unique aspect of genetic test results, the family implications. For all these, there are genetic counselors available that can help and guide people through this.
Which trends and technologies do you expect to see more of in the coming years in the genetic testing industry?
There are some really interesting ones. Increasingly certain genetic tests are qualifying people for certain clinical trials, for example in Neurology where a lot of interesting work is being done. Whether it is a disease that runs in your family or a disease that you have people may previously have said a genetic test is unnecessary as they already know what disease they have, but now are starting to say actually the genetic test provides additional information that will be helpful potentially in developing therapies down the line.
Another trend that we are seeing is a lot of companies are investing in using genetic technology to start screening for disease early, things like identifying markers of cancer in the blood before the cancer is detectable through other screening means. I think it is possible to envision a future where the science has evolved far enough that people are getting an annual test to screen for certain diseases and are able to actually catch conditions earlier and treat them more effectively.
