The ability to use the sequenced human genome in medicine came one step closer to reality with the recent announcement of a new genetic screen for "pre-conception" couples. Adults looking to having a child can submit to a test that screens for 448 severe, genetically recessive childhood diseases.
The new screen aims to inform potential parents of their likelihood of passing on a mutation associated with one of the severe childhood diseases studied by researchers at the National Center for Genome Resources in Santa Fe, N.M. The researchers found that each person carries 2.8 mutations they could pass on to their children. Because the illnesses are recessive, a child would inherit a disease only if each parent passed on one copy of the mutated gene.
Using next-generation sequencing, NCGR researchers examined specific genomic regions related to specific gene targetsassociated with 448 recessive childhood diseases. Their composite screen correctly identified carrier mutations with about 95 percent sensitivity and almost 100 percent specificity. These results, however, were only based on 104 DNA samples.
The frequency of Mendelian diseases, illnesses that are passed on based on the basic genetic inheritance rules proposed by 19th-century scientist Gregor Mendel, is exceedingly low. Collectively, however, these diseases contribute to about 20 percent of infant mortality and 10 percent of pediatric hospitalizations. Moreover, the notion of testing unaffected individuals for the diseases, also known as carrier testing, is not new in the United States. For example, Tay-Sachs disease, a rare, incurable neurodegenerative disease most prevalent in the Ashkenazi Jewish population, has seen a 90-percent reduction in incidence after extensive pre-conception screening. Similarly, carrier screening for cystic fibrosis, a disease marked by a defect in an ion channel for chloride, is common, especially among individuals of European descent - one in 29 of whom are carriers for the cystic fibrosis gene.
The NCGR test screens for eight heart conditions; 45 severe skin, hair and nail conditions; 46 developmental problems; 15 hormone disorders; three digestive tract conditions; 15 blood disorders; three liver conditions; 29 immunological conditions; 142 metabolic conditions; 122 neurological conditions; 12 eye disorders; 25 kidney conditions; eight respiratory disorders and 28 skeletal disorders, according to the United Kingdom's National Health Service.
Additionally, the researchers spent less than $1 per condition tested to maintain the accessibility of the screen.
The screen is expected to be commercially available in the third quarter of 2011.
Andrew Matz is a University Medical student. He can be reached at a.matz@cavalierdaily.com.\n
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