By Dana Knutzen, MS, CGC
Kimberly Nugent, MS, GC
Rebecca Littlejohn, MS, CGC
Genetics spans all areas of medicine. It is woven into the very core of who we are and determines how our body grows and develops. When a baby is born with a birth defect or a child is falling behind in school, sometimes a change in our genetic information is the cause. If a genetic diagnosis is made, it not only affects that individual but can stretch across the family, suggesting other relatives may also be at risk.
Understanding whether your child or family member’s health concerns are part of a genetic diagnosis can be confusing. Information provided by genetic counselors can help you navigate these unknowns and help you find answers to your questions.
What is genetic counseling?
Genetic counselors are health care professionals with specialized degrees and experience in medical genetics and counseling1. They work as members of a health care team providing information and support to families who may be at risk for a variety of inherited conditions or who have a relative with a birth defect or genetic condition. A genetic counselor is familiar with genetic conditions, how they are inherited, what genetic tests are available, and how genetic testing could affect individuals and families. They can help with adjustment to a condition, prevention of symptoms or recurrence, and obtaining resources for information and support. Most importantly, the genetic counselor guides you through the decision-making process so you feel empowered to make the decisions that are best for you2.
What happens at a genetic counselor appointment?
Genetic counselors will review your personal and family history and discuss any concerns they have about possible genetic conditions. They can provide education about specific genetic disorders and discuss the option for genetic testing if available. As the decision regarding whether or not to do genetic testing is yours, genetic counselors can help you reach this decision by exploring all options and possible outcomes. If you choose to do genetic testing, genetic counselors can help explain test results and what they may mean for you, your family members and your children.
Where can I find a genetic counselor at The Children’s Hospital of San Antonio?
Genetic counselors at The Children’s Hospital of San Antonio are located in the Pediatric Clinic and the Center for Maternal and Fetal Care. The Pediatric Genetic Clinic can evaluate adults and children with possible or suspected genetic conditions. The Center for Maternal and Fetal Care can evaluate adults either before pregnancy or during the course of their pregnancy. Information regarding services can be found at genetic services for children and genetic services for expectant parents.
As you prepare for the holiday season with family and friends, consider sharing your health history with relatives. If you become concerned about your family’s health history, consider meeting with a genetic counselor.
November 9, 2017, marks the first Genetic Counselor Awareness Day. Genetic counselors are health professionals who provide personalized care to patients making decisions about their genetic health. At The Children’s Hospital of San Antonio, we have three Baylor College of Medicine genetic counselors who serve the San Antonio community and counsel families through a sometimes challenging decision-making process. Should your child require genetic testing or counseling, contact our team at 210.704.4708 for an appointment. More information regarding the Genetics Program can be found at www.chofsa.org/genetics.
1 Texas Society of Genetic Counselors (www.tsgc.org)
2 Norrgard, K (2008) Medical careers: genetic screening and diagnostics. Nature Education 1(1):92