FAMILY HISTORY
AND GENETIC
SCREENING
I t has long been recognized that common diseases like heart disease, cancer, and diabetes, as well as rare diseases like hemophilia, cystic fibrosis, and sickle cell anemia, can run in families. A complete family health history is an important and powerful tool for the diagnosis and prevention of such diseas- es. An accurate family health history can establish the disease transmission pattern and predict which family members are most likely to be affected, allowing individ- uals with increased risk to talk with their doctors about screening options or preventative care. Advances in genetic sequencing technology enable scientists to continue to unlock the secrets of the human genome, connecting the diseases long observed to be heritable with tangible genetic causes. Genetic testing is useful for diagnosing Mendelian diseases caused by a single, specific genetic variant. The rise of consumer genetic testing companies and the falling price point
of genetic testing make it more desirable for individu- als seeking insight into their genetic health. However, experts in the field of bioethics, including HudsonAlpha Faculty Investigator Thomas May, PhD , heed caution for universal genetic testing for seemingly healthy individu- als until the scientific field can gather more information on its costs and benefits. May is also the Floyd and Judy Rogers Endowed Professor in the Elson S. Floyd College of Medicine at Washington State University. Dr. May and his colleagues at HudsonAlpha and the University of Alabama at Birmingham (UAB) are part of a large-scale genetic testing initiative that provides valuable insight into the utility of genetic testing as a companion to family health history. The Alabama Genomic Health Initiative (AGHI) was launched in 2017 and provides genomic testing, interpretation, and genetic counseling free of charge to Alabama residents 1 . It provides both rare disease diagnostic testing and
HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY
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