. Commonalities and differences in these barriers across countries will need to be further explored and addressed.If a genetic test result does not drive specific management considerations, then it could be argued that the failure to identify a genetic basis for disease through genetic testing is a benign lack of diagnostic specificity.
]. We would caution that diagnostic misattribution that occurs when monogenic disease is managed as polygenic or non-genetic disease, resulting in missed opportunities for care, could before long come to be interpreted as a diagnostic error., where testing was first offered for clinical use in 1996 and yet monogenic case identification failures in the untested remain commonplace.
Given the ethical, legal, and social issues associated with genetic testing, the debate about whether and how genetic testing should be managed as compared to other laboratory tests remains an important one []. Nonetheless, it is time to re-evaluate some of the current practices that foster diagnostic misattribution, including elements designed to offer testing only to individuals with a discernible high pre-test probability.
An evidence-based list of conditions recommended for reflexive genetic testing will need to be proposed, evaluated, and maintained, similarly to the list of conditions recommended for newborn screening panels [
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