|There is no crystal ball that can tell clinicians what to do with|
genetic test results in the event that their patient passes away
and their family members want information.
Our bodies carry two copies of every gene, we get one from our mother and one from our father. Genetic testing is indicated for individuals and families with conditions known or suspected to have a
|DNA helps to make us who we are and is part of our protected|
In 2015, the American College of Medical Genetics put forth guidelines for classifying genetic variants into five different classifications: pathogenic, likely pathogenic, of uncertain significance, likely benign, or benign. These guidelines recommend using published literature, computational predictive programs, family studies, and bioinformatics resources to determine which classification is most appropriate for a specific variant. Information from these sources is combined to assess the variant’s impact on health and determine its classification. If available evidence is insufficient for a variant to be classified as pathogenic, likely pathogenic, benign or likely benign, ACMG recommends classifying the variant as being of uncertain significance until available evidence becomes sufficient to reclassify the variant. Clinicians may use these general guidelines to classify genetic variants, but the details of the process vary. A VUS can be identified in anyone who gets genetic testing. VUS results are not used in medical care, but are recorded by the laboratory that performed the testing until enough information is available to reclassify the variant. However, the reclassification process may take years and some patients will pass away before reclassification of their VUS occurs. When a VUS result is reclassified by a laboratory, many will send out an updated report with relevant information about the variant to the ordering physician. Even after the patient has passed away, the reclassified results may still be of clinical value to surviving biological relatives. Biological relatives of the deceased patient have a certain probability or chance of having the same variant as the patient, depending on how closely they are related. Reclassification of a VUS to a pathogenic variant indicates that biological relatives of the deceased patient may have increased risks to carry the same variant, and associated disease risks. Conversely, a reclassification of a VUS to a benign variant can help eliminate the anxiety associated with an uncertain result.
There are currently no guidelines in place for when and how clinicians should contact biological relatives of a deceased patient to inform them of a reclassified VUS result. However, this issue will
|Determining what to do with genetic test results of someone|
that has passed away may have implications for other family
My study will distribute a questionnaire to about eight-thousand genetics professionals across the
|While it may be a lot of work, researching these types of|
questions go into providing better genetics care for the
For me, the process of developing a study from start to finish has been very rewarding. I am fortunate to work with some very experienced mentors who have provided a great deal of insight into the construction, distribution, interpretation, and reporting processes involved in this study. Developing a survey from scratch has been the most interesting component so far. I learned a great deal about the process of developing a survey and the work that goes into it. I have also worked with the Institutional Review Board (IRB) to ensure the privacy and well-being of research participants is protected and coordinated distribution of the survey with national organizations. It is no surprise that I have learned a great deal in this process. I have a long way to go before this project is completed, so I know I will learn a lot more. I have enjoyed working with my mentors and am excited about the skills I am developing. I now look forward to research opportunities after graduation, and hope to continue working on this issue to reach the end goal of policy development.
|-- Seth Lascurain, Class of 2018|