In our work enabling health plans and health systems to make sense of genetic testing, we have observed that even in a very defined disease state – like aortic disease – the genetic tests available tend to vary widely in gene content and clinical utility. To address this issue, expert consensus groups have tried to define genes of clinical utility for aortic phenotypes.
Our genetic analyst team recently reviewed 31 panels for aortic disease offered by 26 laboratories and found the following:
- Panel size ranged from 6 to 41 genes;
- No two panels were identical in gene content;
- Only 29% of aortic phenotype panels on the market solely contain genes of clinical utility for
- Hereditary Thoracic Aortic Aneurysm/Dilation/Dissection;
- 13% of panels contain genes which have no aortic or vascular phenotype.
Our detailed analysis further demonstrated that inclusion of genes without clinical utility was widespread in the market. Additionally, CPT® coding practices were widely variable.
Though expert consensus groups are beginning to address clinical validity and clinical utility through gene curation and recommendations, the marketplace remains unpredictable. Providers, particularly those with less genetics training, often benefit from the expertise of specially trained genetics healthcare providers when making decisions about genetic testing options.
InformedDNA’s Julie Kaylor, MS, CGC, presents this data at the ACMG Annual Clinical Genetics Meeting in Seattle this week. View the poster as a PDF:
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