Following this introduction are links to pages that contain information about prevention of disease through genetic testing. Each page covers a single gene or a single disorder. The pages may be especially useful to genetic counselors (and other colleagues) who need to prepare Letters of Medical Necessity for insurance prior authorization of DNA testing.
While there are many important reasons to consider genetic testing such as ending a diagnostic odyssey, assessing risks for family members, or assisting in reproductive planning or pregnancy management, these pages focus solely on prevention that occurs postnatally.
Our prevention pages demonstrate how genetic testing can decrease morbidity and mortality of genetic disease and improve the quality of life for individuals and families. In some cases, like Malignant Hyperthermia, disease and disability may be prevented entirely. In other cases, it may only be currently possible to delay the onset or reduce the severity of disease.
We realize that our list is not comprehensive or complete. Nevertheless, we expect that many will be surprised at the multitude ways that genetic testing can decrease morbidity and mortality of disease. We hope that our ongoing work will be useful.
- Ataxia-Telangiectasia (ATM)
- Congenital Myasthenic Syndromes
- Cystic Fibrosis (CFTR)
- DOPA-Responsive Dystonia (GCH1)
- Fabry Disease (GLA)
- Hereditary Breast and Ovarian Cancer
- Hereditary Spherocytosis/Hereditary Ellipocytosis (ANK1, SPTB, SPTA1, SLC4A1, EPB42)
- Li-Fraumeni Syndrome (TP53)
- Malignant Hyperthermia (RYR1)
- Marfan's Syndrome (FBN1)
- Melanoma Predisposition (CDKN2A)
- Multiple Carboxylase Deficiency (BTD)
- Pallister-Hall Syndrome (GLI3)
- Retinitis Pigmentosa (RHO, PRPH2/RDS, USH2A, RPGR, ABCA4)
- Retinoblastoma (RB)
- Stickler Syndrome
- Tuberous Sclerosis (TSC1, TSC2)
- Urea Cycle Defects (NAGS, CPS1)
- X-Linked Emery-Dreifuss Muscular Dystrophy (EMD)