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CONSUMER STORIES:

CASES OF HARM DONE TO INDIVIDUALS WHO WERE UNABLE TO ACCESS QUALITY GENETIC SERVICES²

The stories below were taken form actual cases where Texans were given erroneous information regarding genetic conditions and/or genetic testing.  In many cases, these individuals believed they were being provided with genetic counseling services despite never being seen by a genetic counselor.  Licensure of Genetic Counselors would seek to limit who can refer to themselves as such, thereby ensuring that patients receive appropriate services from credentialed and monitored health care providers.  Unfortunately, the patients in these cases made decisions based upon the misinformation they received, sometimes resulting in poor outcomes.

CASE 1

A teenage girl at risk for developing hereditary colon cancer requested genetic testing to determine whether she was eligible for a clinical trial attempting to prevent development of the disease.  Her mother, who already had a diagnosis of hereditary colon cancer, had a gene mutation detected in the past.  Without consulting a Genetic Counselor or confirming what gene mutation the mother actually carried, the girl had the testing for the most common type of hereditary colon cancer.  When the genetic test result returned as normal (no mutation identified), the family interpreted the result to mean that the daughter was no longer at risk for colon cancer, and no longer needed to be monitored for symptoms.  In fact, the mother had a mutation in a different gene associated with a rarer type of hereditary colon cancer.  The test that was conducted on the daughter did not have the power to detect the mutation carried by her mother, and erroneous interpretation of the test results may have detrimentally impacted the girl’s health. A genetic counselor is trained to document the exact mutation detected in previously tested family members prior to ordering genetic testing on other, at risk, individuals; consultation with a counselor would have prevented this error.

CASE 2

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, unfamiliar with this prognostic 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 prognosis of this defect, prior to making this decision.

CASE 3

A couple delivered a child that was diagnosed prior to birth with a severe kidney abnormality.  The child did not survive the neonatal 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.

CASE 4

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 learns 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.

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