Genetics

Family Planning and DNA

How can the whole genome sequencing (WGS) I have through the Health Nucleus be helpful in family planning?

Through our WGS analysis, we screen for medically significant changes or “variants” in hundreds of genes that can be associated with genetic diseases. Your WGS results will be reviewed in detail with you by one of our clinicians.  If you learn that you have a variant in a gene, questions may arise:

  • What does this mean for my children and/or their future children?
  • Are they also at increased risk and are there any additional tests that can be done to learn more?

Genetic diseases are unique from other medical conditions because they have the potential to affect more than one family member.  Genetic diseases are also inherited in different ways, which means that the risk to future children and other family members varies. (Please see our HLI Community guides on inheritance patterns.)

Why is this important for me?

If you or a family member are considering having children, you may want to learn more about the risks and family planning options associated with genetic diseases.  For couples at increased risk of having a child with a genetic disease, several reproductive tests are available to provide more information, including:

  • Preimplantation genetic diagnosis (PGD): this type of gene analysis is done before pregnancy via in vitro fertilization (IVF) through a fertility specialist and/or assisted reproductive genetics center. After IVF, embryos are tested for the specific gene variant to determine if any have inherited the disorder. Embryos that don’t test positive for the genetic disorder are transferred to the uterus with the hope of leading to pregnancy.
  • Prenatal diagnostic testing: analysis of the gene in question can be done through two different testing options during pregnancy:
  • Chorionic villus sampling (CVS): this procedure is done in the first trimester of pregnancy and involves sampling a small piece of placenta which can then be sent to a specialty laboratory for culture and analysis of the gene variant.
  • Amniocentesis: this procedure is done ideally in the second trimester of pregnancy and involves removing about 20-25 cc amniotic fluid which is then sent to a specialty laboratory for culture and analysis of the gene variant.

Treatments are available for many genetic disorders and genetic testing before birth can make a major difference in medical management and even save a child’s life.  However, for other genetic diseases, treatment may not be available, and deciding whether to have any additional testing before or during pregnancy is a personal decision.  Also, both of the prenatal diagnostic testing options are invasive and carry a small risk of pregnancy loss.  Because of these possible risks, some couples choose to wait until after a baby is born to have diagnostic testing on blood.  There is no right or wrong answer.

How can I learn more?

Meeting with a genetic counselor who focuses on reproductive and family planning issues can be helpful in discussing these options in more detail.   Genetic counselors are professionals with specialized training in clinical genetics who provide education and non-directive guidance to patients and clients about their genetic health.  To find a genetic counselor in your area, go to:  https://www.nsgc.org/findageneticcounselor

To learn more about genetic diseases and family planning options, go to:  http://aboutgeneticcounselors.com/

Sources:

About Genetic Counselors. National Society of Genetic Counselors, http://aboutgeneticcounselors.com/Genetic-Conditions/Prenatal-Conditions. Accessed April, 2018.