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Clinically Actionable Findings

Our GHI team has designed genetic research aimed at making improvements in the prevention, diagnosis and treatment of various diseases. Through our research, we may also:

  • Uncover data that is directly relevant to the health of individual participants, such as identifying high risk for some cancers or for cardiovascular disorders that are associated with sudden death.
  • Find results that point to genetic susceptibilities an individual might have to having severe toxic reactions to some drugs.

We expect that some of the results of our research will lead to clinically actionable findings—meaning a medical intervention, preventative approach or early detection is available. Furthermore, as research such as GHI continues in the medical genomics field, an increasing number of actionable genetic variants will be discovered.

There are many diseases with clinically actionable genes (and genetic variants) for which we currently screen. Below is a listing of some of the diseases that have clinically actionable genes. The American College of Medical Genetics and Genomics (ACMG) generated this list of disorders. Each disease below is hyperlinked to its “Genetics Home Reference” or other National Institutes of Health NIH informational gateway. Please note that these pages have useful information for GHI participants, but some of it can be considered technical.

Hereditary Breast and Ovarian Cancer
Li-Fraumeni Syndrome
Peutz-Jeghers Syndrome
Lynch Syndrome
Familial adenomatous polyposis (FAP)
MYH-Associated Polyposis; Adenomas, multiple colorectal, FAP type 2; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
Von Hippel Lindau syndrome
Multiple Endocrine Neoplasia Type 1
Familial Mediullary thyroid cancer (FMTC)
PTEN Hamartoma Tumor Syndrome
Hereditary Paraganglioma- Pheochromocytoma Syndrome
Tuberous Sclerosis Complex
WT1-related Wilms tumor
Neurofibromatosis type 2
Ehlers-Danlos syndrome (EDS) - vascular type
Marfan Syndrome
Loeys-Dietz Syndromes
Familial Thoracic Aortic Aneurysms and Dissections (TAAD)
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Catecholaminergic polymorphic ventricular Tachycardia (CPVT)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Romano-Ward Long QT Syndromes Types 1, 2, and 3, Brugada Syndrome
Familial hypercholesterolemia
Malignant hyperthermia susceptibility