Student Blog Post by Miranda Ruben (Indiana State University – Class of 2018)
Imagine finding out that your ancestry, which you thought was German and Austrian, was actually primarily British. This is exactly what my mother found out after sending her DNA to an ancestry site. As a genetic counseling student, I found the results interesting and wanted to learn more about their methodology and connectedness with genetic counseling. Although genetic counselors are not typically directly involved with ancestry testing, there can be implications for genetic counselors when patients are concerned about results.
According to an article in the Journal of Genetic Counseling, the majority of genetic counselors do not know very much about this testing. The authors propose that genetic counselors should learn more about these tests in order to help future clients that may come to see them.
In order to help these patients, it is crucial to know how these tests work. The tests depend on 500,000 to 700,000 markers. The type of test depends on what is offered by the company and what the client decides: mitochondrial DNA, Y DNA, or autosomal DNA are the choices. The Y testing, as it would suggest is only available to males and the autosomal DNA testing includes the X chromosome, despite being called autosomal testing. Testing can be done using SNPs, sequencing, or comparing hypervariable regions depending on the company and type of test the consumer orders.
The results from the ethnicity tests could have implications for the consumer such as finding out they are not related to someone they thought that they were, that they are related to someone that they did not think that they were, or that their family, like my mother’s, was from a different place than they originally thought. Implications for genetic counselors concerning this include counseling about consanguinity, insest, or increased risks of being a carrier for a recessive disorder that is more prevalent in the learned ethnicity.
Besides the direct results from the companies, most offer the raw data from the DNA testing for download as well. Once downloaded, there are sites that analyze the data and can give the consumer results based on the analysis. This may be another area where patients have concerns. Being able to discuss the results of these tests or the limitations is necessary.
Like other genetic counseling sessions, genetic counselors need to support their patients even when they are coming because of this alternative testing. As a genetic counselor, it is still important not to dismiss the patient’s desires when it comes to their testing options. When it comes to questions that are out of your scope, consulting with genetic counselor that specializes in personalized medicine or ancestry may be necessary.
Although this isn’t the typical type of testing results that we will talk about as genetic counselors, it is important to know some of the basic information. For most companies, there will not be a genetic counselor associated with the testing and we may be the ones fielding the questions in the future.
Kirkpatrick, B. and Rashkin, M. “Ancestry Testing and the Practice of Genetic Counseling.” Journal of Genetic Counseling 26.1 (2016): 6-20. Web.