Growing consumer awareness and the increasing availability of genetic tests for many conditions is likely increasing the number of questions your patients are asking about their risk of disease, the risk to their offspring and whether genetic testing is right for them. Genetic counselors can help you address your patients’ needs and incorporate genetics and genomics into your practice.
1. What is hematology genetics?
Hematology genetics is the study of genetic and environmental factors that influence non-malignant hematologic conditions. Some of these conditions include bleeding disorders, thrombophilias and hemoglobinopathies. These disorders have various etiologies, disease causing mutations and inheritance patterns. Genetic testing is available for many of the known disease causing genes, and there is ongoing research to identify additional causative or disease-modifying genes.
2. Who should I refer to a genetic counselor that specializes in hematology?
Individuals who have a diagnosis or family history of a benign hematologic condition should be referred. Referral to a hematology genetic counselor should also be considered when a patient has a known or suspected genetic condition involving hematologic disease such as Fanconi anemia, Hermansky-Pudlak syndrome or thrombocytopenia absent radius (TAR) syndrome. Patients will benefit from genetic services throughout the many stages of their life (i.e., preconception, prenatal, pediatric, and adult).
3. What benefit does a hematology genetic counselor provide to my patients (PCP and/or specialist)?
A genetic counselor who specializes in hematology can educate your patient about his/her diagnosis, including information about how a diagnosis is made, the clinical characteristics, inheritance pattern and genetic components of the disease, as well as the benefits, limitations and risks of genetic testing. A genetic counselor can interpret previous test results for your patient, explain how these results can impact family members and support your patient as he/she makes important decisions regarding diagnostic testing, carrier testing, or whether to pursue a prenatal diagnosis.
4. What evidence is there to recommend or support genetic counseling in hematology genetics? (i.e. list Practice Guidelines, Publications, and Policies that recommend and support genetic counseling in this clinical area and we will hyperlink to them on the NSGC website if they’re available online or include a PDF document)?
The World Federation of Hemophilia has expressed their position on the importance of genetic counseling for individuals with hemophilia in their publication “Genetic Counseling for Hemophilia”.
The National Institute of Health has a published “The Management of Sickle Cell Disease” which also emphasizes the role of genetic counseling for families affected with sickle cell disease.
The American College of Medical Genetics has issued guidelines for Factor V Leiden and prothrombin 20210GA testing, which include the use of genetic counselors for result interpretation and communication with the patient.
In addition, the use of genetic counseling in thrombophilia care is discussed in articles by Varga, E.4 and Thornburg, C et.al.5.
5. What do I tell my patient about a referral to hematology genetics (what to expect during the appointment, what questions will be asked, what topics will be discussed, how the appointment will be valuable to them)?
Genetic counseling appointments are tailored to each patient's reason for referral and questions. In general, your patient’s medical and family histories will be obtained and available testing results will be reviewed. The patient’s genetic diagnosis, the inheritance pattern of the disease and risks to other family members will be discussed in detail. Psychosocial issues and reproductive options will also be discussed, particularly if your patient is interested. If additional genetic testing is available and/or recommended, the benefits, limitations, and risks of such tests will be explained. The goal of the appointment is to provide your patient with information that is accurate, concise and easy to understand. Patients who meet with a genetic counselor have a unique opportunity to receive ongoing support, information and continuity of care all of which provide a solid foundation for personalized and informed decision making.
6. Where can I find a genetic counselor specializing in hematology genetics?
Search the NSGC Find a Genetic Counselor Directory and select hematology under type of specialty.