The practice of medical genetics is changing. Advances in technology, growing awareness, and accumulating evidence are accelerating applications of genetic testing throughout clinical medicine. There are well-established clinical indications for genetic testing in the pediatric population that extend to the adult population which provide important clinical insights into the natural history of many recently characterized genetic conditions.
There are more than 5,000 distinct genetic conditions affecting around 5% of the general population. Roughly 50% are inherited and 50% due to randomly acquired genetic changes, early in embryonic development (de novo). Their clinical presentations define the spectrum of human genetic and phenotypic variation. Differentiating congenital versus acquired causes of diseases is a significant consideration throughout patient care and in particular, in establishing indications for genetic testing.
The role of genetic testing throughout clinical medicine is rapidly evolving. Established indications with high diagnostic yields include:
- Established or suspected family history of genetic disorders
- Congenital anatomical anomalies
- Neurodevelopmental delay and intellectual disability
- Congenital or acquired movement disorders
Other clinical circumstances associated with genetic involvement include:
- Non-response to standard treatments or therapies
- Remarkable clinical presentations, progression, or pathology
- Complex or multisystem disease
The outlook for therapies is highly dependent on the condition and advances in cellular and genetic therapies offer the brightest prospects for stabilization and even reversal of disease.
SequenceMD Sees Patients with Rare Conditions with Unique and Unmet Medical Needs
- Adults with a personal or family history of inherited genetic conditions
- Adults with undiagnosed, misdiagnosed, or unrecognized rare genetic conditions seeking diagnostic clarity
- Families or persons seeking knowledge on their reproductive and other health risks
- Persons with a history of negative non-diagnostic genetic testing
SequenceMD Relies on a Diverse Referral Network Across Specialties, Providers, and Conditions