Elizabeth Kearney, the President of the National Society of Genetic Counselors in the US, gave me an interview this weekend, and commented on how direct-to-consumer (DTC) genomic companies should provide their customers with genetic counseling, which is a crucial part in the whole process.
As President of NSGC, Liz Kearney is responsible for leading the association and serving as the chief spokesperson. Liz is committed to promoting the many benefits genetic counselors bring to other healthcare professionals and patients. Liz received her genetic counseling degree from the University of Michigan in 1996 and practiced in a variety of settings, including prenatal diagnosis centers, a general genetics department, and a diagnostic laboratory. She also earned an MBA from Northwestern University in 2006, and in 2007.
1) Recent news have been focusing on regulations around DTC genomic companies such as 23andMe, Pathway Genomics or Navigenics. How do you think DTC genomics should be regulated?
The NSGC would support regulation that requires the involvement of a qualified healthcare provider in ordering, interpreting, and delivering genetic information. In the mean time, the NSGC strongly recommends that consumers talk to a genetic counselor prior to having genetic testing to discuss what questions or concerns they have. A genetic counselor has specialized training in both medical genetics and counseling and will review a person’s family and medical history in light of the person’s specific questions to determine if there is appropriate testing available.
2) We, genetic bloggers, have been writing a lot about the potential problems with these genetic tests and the harm they can cause to laypeople. Is genetic counseling the solution for this?
Seeking genetic counseling prior to genetic testing is an excellent way to protect against potential harm to consumers who do not have much knowledge or experience with genetics. Sometimes tests will provide helpful information and sometimes the information is either not helpful or even alarming.
For example, if you have concerns about a history of diabetes, a genetic counselor would review the family history in detail before ordering any genetic testing. It may be that the family history is sufficient to raise concerns about your chances to develop diabetes, and then the genetic counselor would recommend you talk to your primary care doctor about regular diabetes screening. Additional genetic testing may only confirm what is already known (through reporting an increased chance) or falsely reassure you (through reporting a lower chance) because the genetic factors tested are not the ones causing diabetes in your family.
On the other hand, genetic tests can reveal powerful information. For example, a 30 year-old male with shortness of breath saw his doctor, who performed an ultrasound detecting a thickening of the heart muscle (hypertrophic cardiomyopathy). This thickening can be an inherited and treatable condition. The cardiologist worked with a genetic counselor to order the appropriate genetic testing, and the genetic counselor explained the positive results which allowed identification of other relatives at-risk to allow surveillance and earlier treatment. The testing may have helped save or prolong the lives of the individual and/or his relatives, but the doctor and patient needed the help of the genetic counselor to identify the right test for him and explain the results.
3) How can I contact a genetic counselor after ordering DTC genetic tests? As I can order such tests online, could I also contact genetic counselors the same way? What about patient privacy?
Patients who have DTC genetic testing can absolutely contact a genetic counselor to review the results afterward. You can find a genetic counselor by visiting www.nsgc.org, and clicking on the “Find a Counselor” link on the left-hand side of the homepage. The drawback of waiting to contact a genetic counselor until after ordering testing is that you may pay for genetic testing that is not helpful in answering your specific questions or may reveal alarming information that you weren’t expecting to receive.
Recent legislation, the Genetic Information Nondiscrimination Act (GINA), protects people from discrimination by their employer or insurer based on genetic information in the absence of manifestation of disease. Therefore, consumers can be comfortable sharing genetic test results with a genetic counselor or other healthcare provider if it is in the context of their medical care.
4) Genetic counseling is the most important part of the whole DTC genomics process. Do you think DTC genomic companies do their best to provide their customers with the possibility of speaking with a genetic counselor?
Each company is different, but consumers should look for companies that employ genetic counselors and strongly encourage or require speaking with a genetic counselor prior to genetic testing.