Dr. Michael Snyder: Interpretation of Whole Genome Sequencing in Clinics

Psomagen Blog

Whole-genome sequencing (WGS) is a service that has held a lot of promise for the clinical and personalized medicine world. Having treatments and regimens that were specific to your own unique needs is something that many are striving to achieve based on WGS findings.


Dr. Snyder and his colleagues, such as Frederick E. Dewey, MD, Jason D. Merker, MD, Ph.D., and Atul J. Butte, MD, Ph.D., et. al. held a study with 12 participants that all underwent WGS. Over the course of approximately a year, the team studied their genes and reviewed any potentially reportable findings. What they found is depending on the type of platform that was used; anywhere between 10%-19% of inherited disease genes were not included in the standards for single nucleotide variant discovery.


In each participant in the study, there were 2-6 findings of risks for disease, including one instance of a frameshift deletion of the BRCA1 gene, which is related to the presence of ovarian and breast cancer. These findings then prompted the consideration of 1-3 diagnostic tests and referrals per participant. Also, there was a somewhat low inter-rater agreement between these findings and the follow-up appointments.

There are certain cases where WGS will be helpful in a clinical setting and identify cases where medical intervention is necessary, and this should always be kept in mind when considering the roles of WGS in clinical medicine. The issue that many run into is the interpretation of the genetic information, and when the interpretation will lead to the need for action on the participants' end.


As the price of WGS drops, it is becoming a more relevant practice that can help to uncover rare family diseases and even early detection of a serious disease. There are many questions being raised about the duties of discovering and interpreting findings, and there are still many that go unanswered.

The next step for this field is to answer the questions “When should I report a finding?” and “Is this data significant enough to report?”


Read on to see a more in-depth view of Dr. Snyder’s study with The JAMA Network. Also, don’t forget to come to the Macrogen Exhibitor Education Luncheon Event on the 19th of October as Dr. Snyder will be the speaker!