4 Ways Genetic Counselors Flip The Script With Infertility

By Leslie Evans, MS, CGC; ORM Genomics PGD Program Manager

Leslie Evans, MS, CGC
Leslie Evans, MS, CGC

April 22-28, 2018 is National Infertility Awareness Week, a campaign founded by RESOLVE in 1989 to raise awareness about the disease of infertility and encourage the public to understand their reproductive health. This year’s theme is #FlipTheScript, which aims at changing the conversation about infertility.

Infertility is estimated to affect one in eight couples, and in nearly half of these couples, the cause of infertility may be genetic. Genetic counselors are masters-level professionals who have specialized education and training to provide personalized help for patients to make decisions about their genetic health. For individuals and couples experiencing infertility, genetic counselors are an essential part of their fertility team to help them navigate genetic screening and testing options and maximize their odds of getting pregnant with a healthy baby.

Here are four ways a genetic counselor can assist you on your fertility journey:

1. Family History Evaluation

This screening is performed before pregnancy occurs. First, you are given a questionnaire to take home and review with your family.  It contains questions about relatives including:

  • birth defects
  • learning, memory or mental health problems
  • Stillbirths or babies that died young
  • Couples who have had two or more miscarriages
  • Cancer under the age of 50 and/or in multiple family members
  • Heart disease under the age of 50 and/or in multiple family members
  • Any known genetic diseases

The questionnaire is reviewed in detail by the genetic counselor who often will draw the family tree for you and your partner, which is called a pedigree. The genetic counselor may recommend further genetic testing to identify causes of symptoms within the family.

2. Recessive Carrier Gene Screening

A carrier screen is a genetic (DNA) blood test that investigates whether you have (“carry”) recessive gene changes – also called mutations – that could cause certain serious genetic diseases in your children. A genetic counselor can help you understand how carrier screening could impact your reproductive plans. Testing before pregnancy allows us to discuss options for prevention of genetic disease with you, rather than coping with this information during the pregnancy or after a baby is born with the condition.

3. Preimplantation Genetic Screening/Comprehensive Chromosome Screening (PGS/CCS)

CCS allows doctors to screen and select embryos that have the normal number of chromosomes. Transferring embryos with normal chromosome screening can in many cases decrease miscarriage rates, increase rates for healthy live births and minimize the number of transfer cycles necessary. This procedure involves an embryo biopsy after IVF.  One-hundred percent of patients at ORM who took a satisfaction survey responded that they found genetic counseling to be helpful in understanding and making a decision about CCS.

4. Preimplantation Genetic Diagnosis (PGD)

PGD, which also involves embryo biopsy after IVF, involves performing DNA testing on embryos at risk to have a specific genetic disease or chromosome rearrangement discovered by taking the family history, genetic testing or through recessive carrier screening.  PGD is a complicated process that involves customized test development for each patient our couple. Genetic counselors not only walk patients through this process for decision-making, but they also work closely with the testing laboratory to make sure they have the information and biological material needed for test development, and keep the patients updated on the progress of the PGD process.

ORM Genomics has five in-house genetic counselors and a genetic services coordinator on staff to answer questions about genetic risks to your baby.

To learn more about National Infertility Awareness Week and #FlipTheScript, go to infertilityawareness.org.

If you would like more information on how genetic counselors can help with infertility, please register for the free webinar featuring Leslie Evans and Gena Shepard, two ORM genetic counselors. This webinar is hosted by the National Society of Genetic Counselors as part of their Genetic Counselors and You Webinar Series and will be held live on April 25th at 7pm CDT. If you cannot attend the event live, it will be recorded to be viewed at a later date. Register today!


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