About this Research Topic
Recently, the American College of Medical Genetics and Genomics (ACMG) published a policy statement on recommendations for reporting incidental findings–those not related to the primary indication for testing but with potential medical utility–in clinical exome and genome sequencing.This working group presented a “minimum list” of Mendelian disorders for which any known pathogenic and expected pathogenic secondary variants would be routinely reported to the clinician who ordered clinical sequencing. Remarkably, most of disorders in this list are hereditary cancer syndromes which can be manifested during childhood. As recommended, these variants would be reported independently from patients’ preferences and age, and the ordering physician would be responsible for providing patients and family members with pre-post test counseling and follow up. Surely, this will bring new challenges for the next-gen sequencing era.
Manuscripts are welcome if they include but are not limited to:
1. hereditary/familial cancer
2. germline susceptibility
3. risk assessment
4. genetic counseling
5. germline testing
6. secondary/incidental findings
7. ethical issues
8. missing heritability
9. variants of unknown significance
10. management
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.