What is the current and future role
of genetic
testing in the screening
and evaluation of athletes? |
A host of medical problems attend
athletics, from acute events (eg,
sudden death) to chronic conditions
(eg, degenerative arthritis). There
is increasing interest in genetically
identifying athletes at heightened
risk for morbidity or mortality. The
focus has been on uncommon disorders
caused by mutations in single
genes. Eventually the focus will
expand to include multifactorial
conditions, such as coronary artery
disease. Genetic testing, even for
Mendelian disorders such as Marfan
syndrome, familial hypertrophic
cardiomyopathy, and the long QT
syndromes, is more complicated
than other forms of testing in medical
practice, and involves issues
of analytic and clinical validity,
clinical utility, cost, discrimination
and stigmatization. Moreover, genetic
testing requires pretest and
posttest counseling that either is
ignored by practitioners or is beyond
their current level of understanding...
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