A patient was seen by a private oncology office for breast cancer gene testing.
She was seen by the “genetic counselor,” a physician's assistant whose only training
was provided by the medical laboratory who offers the testing. The patient had a
personal history of ovarian cancer and a family history of breast and ovarian cancer
as well. One of her sisters had already tested positive for a breast cancer gene
mutation, putting the patient at 50% risk. The physician's assistant calculated
a 33% risk for the same mutation, but neglected to include the patient’s diagnosis
of ovarian cancer in the calculation. Including this information would have increased
her risk for the familial mutation to almost 100%, rather than the 33% that she
was quoted. In this case the physician’s assistant did not understand the concept
of dominant genetic inheritance or cancer risk assessment. Additionally, because
the known familial mutation was ignored, this patient underwent full gene sequencing
at a cost of $3120 instead of single mutation testing for $385.
A pregnant patient had an ultrasound and was told the baby had a gastroschisis,
a defect of the abdominal wall generally associated with a good outcome after delivery
and surgical correction. The woman, unaware of this information, pursued a termination
of pregnancy based on what she believed to be a “poor prognosis and severity of
the defect.” Had the patient had access to a genetic counselor, she would have received
a clearer picture of the potential outcome for her child, prior to making this decision.
A couple delivered a child that was diagnosed prior to birth with a severe kidney
abnormality. The child did not survive the newborn period, a genetic diagnosis was
never made and genetic testing was never performed. Because the couple did not have
access to a genetic counselor, they did not understand the importance of obtaining
confirmation of the child’s underlying diagnosis. In planning for a future pregnancy,
it is now impossible to advise the couple regarding the risk of recurrence for a
similar problem, or whether there may be testing options available.
A man was referred to a neurology clinic for a movement disorder. His provider ordered
genetic testing for Huntington’s disease outside of the standard genetic counseling/testing
protocol. This lack of access to such counseling resulted in incomplete understanding
by the family of the ramifications of genetic testing. When the man’s results indicated
that he did, in fact, have a Huntington’s disease gene mutation, he was finally
referred to a genetic counselor. During the session, the counselor learned that
the man did not have life, disability, or long-term care insurance. The genetic
counselor would have discussed the impact a genetic mutation may have had on the
man’s eligibility for such insurance prior to his undergoing genetic testing. The
man later attempted to obtain insurance and was denied due to his diagnosis.