By Marie Schuetzle, MS CGC
Published in Resolve, for the journey and beyond, Winter 2012
Genetic counselors are health care providers specially trained to review a couple's medical and family histories to determine the likelihood of a genetic cause for infertility. They work with your providers to answer questions and identify the best management for you. Professional organizations state that an individual with specialized expertise in genetic counseling is essential in the care of individuals seeking infertility treatment.(1)
A genetic counselor can help increase the odds to have a healthy baby for some couples. A genetic evaluation can sometimes uncover the reason for infertility which can help identify if there are treatment options available. For example, approximately 20% of male infertility is caused by an underlying genetic issue.(2,3) Finding the genetic issue helps identify the most effective treatment options to increase the chance to have a healthy baby.
A young couple has had a history of miscarriage together with the inability to become pregnant otherwise for over a year. They seek genetic counseling to help find the reason for their problems. During their genetic counseling session, their health history, family history and previous medical test results are reviewed. They also talk about the health of other family members and their family members’ experiences with pregnancy. The genetic counselor tells them about the possibility of a genetic cause for their infertility and discusses testing options. The woman pursues testing that identifies a genetic change called a balanced translocation, which is found in approximately 5% of couples with infertility.(4)
A balanced translocation is a rearrangement in the chromosomes that can cause an increased risk for multiple miscarriages, including miscarriages that can occur prior to the woman even realizing she is pregnant. In addition, there can also be an increased risk to have a baby born with a chromosome abnormality, which can lead to birth defects and developmental delay. The genetic counselor explains all of the risks associated with the balanced translocation as well as the couple’s reproductive options, including preimplantation genetic diagnosis (PGD). Some literature has reported that PGD can reduce miscarriage rate by 70% and increase the take home baby rate by almost 70%.(5) PGD is typically not offered to all couples, but rather those in specific situations such as the one discussed here. Genetic counseling identified PGD as a option for this couple. They were able to use this information to make informed decisions about future pregnancies and medical treatment.
Genetic counseling does not equal genetic testing. Although many genetic tests are available, not all are useful or necessary in every individual. Genetic counselors help identify which tests, if any, may be most helpful for each particular couple. The goal of genetic counseling is to provide information about the benefits and limitations of those test to help couples make informed decisions.
A young couple has not been able to become pregnant for over 1 ½ years. They have had many doctor visits, medical tests and fertility treatments. As part of this evaluation, they were both found to have a change (also called a variant) in their MTHFR gene. To their frustration, no one has been able to explain what this result is or what to do about it. They were referred for genetic counseling for further information. During the genetic counseling visit, the counselor was able to review this result in light of the rest of the medical and family history. Ultimately, this MTHFR variant may have implications for their personal and reproductive health, but the exact meaning is unclear. Additionally, given the current understanding of this variant, there is no recommended treatment based on the presence of the variant alone. This type of scenario is common in many genetic tests where there is limited understanding of a particular genetic finding. After this explanation, the couple felt much more informed and wished they had known the limitations of MTHFR testing before they decided to get the test.
If you are interested in learning more, you can locate a genetic counselor in your area through the National Society of Genetic Counselors (www.nsgc.org).
(1) SART, ASRM. Revised minimum standards for practices offering assisted reproductive technologies. Fertility and Sterility. Vol 90, Issue 5, Supplement , Pages S165-S168, November 2008
(2) Moskowitz, S. et al. (February 19, 2008) CFTR-Related Disorders. GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1250/.
(3) Disteche, C. (March 19, 2007) Y Chromosome Infertiliity. GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1339/
(4) Nussbaum, R., McInnes, R., Huntington, W. (2001) Genetics in Medicine 6th Edition. Philadelphia, Pennsylvania: W.B. Saunders Company.
(5) Vol 11. No 2. 2005 219–225 Reproductive BioMedicine Online; www.rbmonline.com/Article/1798 on web 23 June 2005
Marie Schuetzle leads the Reproductive Genetic Counseling team for Informed Medical Decisions, Inc. She began her genetic counseling career at Mayo Clinic's Molecular Genetics Lab after earning her Master's degree in Genetic Counseling from Indiana University. Her interest in reproductive genetic counseling continues from her past involvement in Maternal Fetal Medicine and Reproductive Endocrinology and Infertility clinics. She has experience as a Reproductive Medical Advisory Board member and Instructor in Laboratory Medicine and Pathology. Learn more at www.InformedDNA.com