Adenine, thymine, cytosine and guanine—these are the simple, yet complex building blocks of our DNA. To most, these words seem like a foreign language, but to those of us who are passionate about genetics, they compose a language of love that only a few can interpret. Explaining the complexities of the genetic code is a skill well known to genetic counselors. A single alteration in the blueprint of our bodies can lead to significant disease. For conditions like hemophilia or von Willebrand disease, a single change can have a lifelong impact on an individual and his or her family.
Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. In the bleeding disorders community, there is a growing awareness of the value that genetic counselors bring to the healthcare team. (See “Genetic Counseling.")
Common questions we hear from families who seek our services include:
“What is the chance I will have another child with hemophilia?”
“Can I be tested to see if I am a carrier?”
“What options do I have as I plan for my family?”
We not only answer these questions, but also inform patients about their genetic and reproductive testing options. We do so in a way that empowers patients to make decisions that are best for themselves and their families.
Typically, a genetic counseling session involves a review of one’s personal and family history of bleeding; education on the inheritance, management and prevention of disease; and a discussion of the benefits and limitations of genetic testing. With the increasing availability of genetic testing in the bleeding disorders community, the need for genetic counselors is rapidly expanding.
Genetic testing provides critical information about the genetic cause of hemophilia in a family, potentially allowing for prenatal testing, testing of other family members and identification of individuals who may have an increased risk of developing an inhibitor. Genetic counselors also help patients and their families identify available resources and support groups as needed. And we are able to tailor each interaction to meet the specific needs of patients.
As genetic counselors, we are an integral part of your hemophilia treatment center (HTC) team. Your HTC can help you contact a genetic counselor in your area. For additional listings, click the “find a counselor” link on the National Society of Genetic Counselors website: nsgc.org.
Marianna H. Raia, MS, CGC, is a genetic counselor who formerly worked for the Gulf States HTC in Houston. She now works for a private company.