Texas Children’s genetic counselors play critical role in patient care, outcomes

July 26, 2016
Samantha Stover (above right) and Andi Lewis (below right) provide genetic counseling and support to their patients.

If you ask Samantha Stover what she enjoys most about being a prenatal genetic counselor, her answer is simple – empowering her patients with the knowledge and emotional support they need to make an informed health care decision.

Whether it’s ruling out a specific genetic condition or explaining all the genetic risks associated with a current or future pregnancy, Stover is a tireless advocate for her patients helping them navigate through this emotional journey of information gathering and genetic testing.

“Disclosing abnormal results or talking about potential syndromes or problems for a pregnancy is never easy,” said Stover, a genetic counselor at Texas Children’s Maternal-Fetal Medicine clinic. “We owe it to our patients to answer their questions and help them come to an informed decision about whether or not they want to have a genetic test and how they want to manage their care after the test results.”

As a liaison between the physician and patient, genetic counselors are an important part of the health care team. Specially trained in the areas of basic science, medical genetics, psychology and epidemiology, genetic counselors work closely with our physicians from various pediatric subspecialties to evaluate a family’s risk of an inherited medical condition, decide what genetic tests to order, and interpret and use the test results to provide guidance to patients and their families. With over 20 genetic counselors at Texas Children’s alone, spread across many subspecialties, genetic counselors play a unique role that illustrates the importance of genetics in all areas of medicine.

Genetic counseling can be a very time-intensive process with a new patient appointment typically ranging from 45 to 60 minutes. Much preparation occurs prior to the appointment, which involves gathering a patient’s medical records and history, drawing the family tree or pedigree, and researching various possible diagnoses and recommendations for genetic testing options for the family.

“Since genetics is a very fast-paced and rapidly evolving field, we have to stay up to date with current genetic research and testing to provide patients with the most accurate information and best care possible,” said Andi Lewis, a Texas Children’s pediatric genetic counselor in the general genetics, neurofibromatosis, and cardiovascular genetics clinics.

While Stover provides genetic counseling for pregnant patients and women who are planning to start a family, Lewis lends her expertise to families of children with suspected genetic disorders by guiding them through the process of achieving a diagnosis of a genetic syndrome.

In addition to meticulously reviewing genetic test results with a geneticist before sharing the results with families, Lewis writes genetic counseling letters to families explaining genetic diagnoses and their impact on the patient and family, as well as drafting letters of medical necessity to insurance companies to explain the rationale and need for genetic testing for each specific child.

As genetic counselors, Stover and Lewis don’t just provide information – another essential part of their responsibility is delivering emotional support to patients and families and connecting them to support groups and other resources during what can be a challenging and confusing time.

“I have been a shoulder to cry on when no one else could relate to the specifics of a patient’s case and they had no one to turn to,” Stover said. “I’ve seen families back for a new pregnancy after a devastating prior loss or a long battle of recurrent miscarriages or infertility. I’ve celebrated with some after great outcomes and I’ve secretly cried with others. But above all, the impact my patients have had on me is indescribable and that’s what makes this job so amazing.”

Whether delivering good or not so good news to patients and their families, empowering them with the knowledge to make an informed decision lies at the heart of genetic counseling.

“With genetics being a growing component of many other subspecialties, and a rapidly evolving field, there is a huge demand and need for genetic counselors to work within all areas of medicine so that we can help our patients and families understand the potential impact that genetics can play on their lives while supporting them throughout the process,” said Pilar Magoulas, pediatric genetic counselor at Texas Children’s and chief of the Division of Genetic Counseling at Baylor College of Medicine, Department of Molecular and Human Genetics.

“Assisting families with obtaining genetic testing requires dedication, but it is also worth it when we can either rule out a condition or end that family’s “diagnostic odyssey,” Lewis said. “My goal is that the information I give empowers the families I serve at Texas Children’s.”