Blogger's Note: includes reference to BRCA/
Quality standards and samples in genetic testing -- Ravine and Suthers 65 (5): 389 -- Journal of Clinical Pathology
Conclusion
The goal of a clinician is to
provide the patient with an accurate diagnosis, prognosis and
therapeutic options, including
in relation to diseases for which
genetic tests are available. Similarly, the goal of a medical laboratory
is to provide the
right result for the right patient in a
timely fashion every time. Alexander Pope wrote in An Essay on Criticism
that ‘To err is human…’. Three hundred years later, his message is
still potent. All arenas of human endeavour are at risk
of human error, and the emerging
discipline of genetic testing is not immune. Errors will occur here, as
they do in other
areas of laboratory testing, and
medicine in general. It is of little comfort that sample errors, such as
WBIT, are likely
to be more common than reports of
adverse incidents.
Like the proverbial elephant
in the room, we know the errors are present but we hesitate to talk
about them. The issue must
be addressed, however, because errors
in genetic testing have the potential to prompt clinical decisions with a
high risk
of attendant harm. They may also direct
important life choices for those being tested, with ramifications that
may influence
human health and welfare at all
developmental stages. Some errors will invariably lead to outcomes over
which the person being
tested will have no control, such as
wrongful conviction in a court of law. Errors in genetic testing may
also waste the increasingly
scarce health dollars, and place
individual healthcare practitioners at professional, legal and financial
risk. It is now
time for the profession to consider the
full range of errors that are possible along the genetic test
processing chain from
patient to result, and devise
appropriate risk minimisation strategies. Until such data are available,
individual healthcare
practitioners involved in genetic
testing should consider the associated possible risks to patient health
and welfare, and
look beyond the baseline standard of
testing a single sample.
