Clinical genetics laboratories and the official reports they provide are limited to the standards set
by the American College of Medical Genetics (ACMG). These standards are excellent for
determining which variants are the likely cause of disease in many settings. However, they suffer
from the following limitations:
- Most laboratories do NOT report findings that MIGHT be disease related, even if there is
a possible therapy.
- ACMG standard are designed for monogenic disease, which is disease caused by a
variant in one gene. Most human disease is polygenic, which means that disease is
influenced by risk factors consisting of variants in more than one gene.
- In particular, functional (e.g. pain, fatigue, GI dysmotility, dysautonomia,
depression) and neuro-developmental (e.g. autism, ADHD) disorders are
generally thought to be polygenic.
- Most geneticists and genetic counselors that interpret the sequence data for laboratories
are trained in a strict allopathic manner, with little to no training in functional medicine.
For all of the above reasons, sequence variants related to disease are likely to be missed by the
laboratory and NOT listed on the reports. A re-analysis of the raw sequence is needed in order to
identify them, and this is what the Comprehensive level of the Service is designed to accomplish.