What is genetic counseling?
Genetic counselors are health care professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. They work as members of the health care team, providing information and support to couples that have a family history of a birth defect or genetic disorder or are at risk for having a child with an inherited condition.
Who might benefit from genetic counseling?
Individuals, couples, and families with the following concerns could be referred for genetic counseling
- A child or a close relative with a birth defect, mental retardation or a known or suspected genetic disorder.
- Family history of a known or suspected genetic condition.
- Women who will be 35 or older at the time of delivery and have questions about risks to their children.
- People at an increased risk for genetic conditions based on ethnic background (ie. Cystic fibrosis in Caucasians, Tay-Sachs in people of Jewish ancestry).
- Couples who have had multiple miscarriages (3 or more)
- Infertility due to a genetic cause, such as, cystic fibrosis mutations, Fragile X carriers, Y microdeletions, or other chromosome abnormality.
Why is genetic counseling an important component of egg donor screening?
Genetic counseling is an important part of the egg donor screening process. By taking a detailed family history the genetic counselor is able to identify and quantify risks to offspring and present these risks to potential recipients. The genetic counselor will ask the egg donor questions about her family in order to find out if there are any conditions that are likely to be a risk to the next generation. The genetic counselor will ask the egg donor about her ethnic background as well in order to identify appropriate carrier screening tests that should be preformed before she donates.
What is the role of genetic counseling in infertility and assisted reproductive technologies (ART)?
Many couples seeking infertility treatments and ART may also have genetic risks that can be addressed by a genetic counselor. Genetic risks may be due to their infertility diagnosis, their age, their family history, or their ancestry. Some of the more common concerns related to infertility and genetics are:
- Male factor infertility due to congenital absence of the vas deferens related to cystic fibrosis mutations.
- Male factor infertility due to Y chromosome microdeletions.
- Women with premature ovarian failure or early menopause who are at risk to have fragile X mutations.
- Women with recurrent spontaneous abortions who are at risk to have a structural chromosome abnormality.
- Couples with concerns or questions about the risk of chromosome abnormalities with Intracytoplasmic Sperm Injection.
- Women who will be over 35 at the time of delivery and are wondering about risks to their offspring and options for screening and testing in utero.
- Couples interested in preimplantation genetic diagnosis based on a family/personal history of an inherited condition.
Who is our Genetic Counselor?
SRM's Genetic Counselor, Elizabeth Repass is available for appointments for any patients concerned about genetic issues related to their fertility. She received her Bachelors of Science in Education and Biology from Northwestern University and her Masters in genetic counseling from Johns Hopkins University. In addition to her work with SRM, Elizabeth works with high risk pregnancies counseling families about genetic risks to their offspring based on family history, maternal age, ultrasound findings and abnormal screening results.
To make an appointment call 206-301-5000 or click here.