Genetic counselors are health care professionals trained in genetics and counseling. They have graduate degree training and are certified by the American Board of Genetic Counseling. Genetic counselors practice in several subspecialty areas of genetics including assisted reproduction technologies, infertility genetics, and prenatal diagnosis. Our genetic counselors will help patients understand the complex information they will be facing in their PGD or PGT cycle, and encourage their own decision making according to what's best for them. They will also serve as a liaison between our patients, their fertility doctor, and the PGD/PGT laboratory regarding the embryo testing portion of their cycle.
What is PGD or PGT?
Preimplantation genetic diagnosis (PGD) is the testing of embryos for a specific genetic disease known in the family.
Pregenetic Testing (PGT) is the testing of embryos for general chromosome abnormalities such as Down syndrome.
For those patients who are considering PGD or PGT, their IVF doctor will recommend they have a consultation with our genetic counselors prior to beginning their treatment cycle. Patients may feel like this is one more step in a daunting process. As well, they may have already discussed this option with their doctors and know why they are considering PGD/PGT. But a thorough understanding of the process of how genes are important in human embryos is a basis for understanding what the PGD/PGT process can and cannot tell patients about their embryos.
Common Reasons For Considering PGD/PGT:
- Genetic disease in the family which presents a risk to offspring
- Chromosome rearrangement in a parent
- Maternal age (as eggs age, there is a higher risk for chromosome abnormalities)
- Unexplained recurrent pregnancy loss
- History of unexplained unsuccessful IVF cycles
- Sex selection
What Happens During A Genetic Counseling Visit?
There are two main objectives in genetic counseling for PGD/PGT:
Family History Review
Our genetic counselor will take a three generation family tree (pedigree) to identify any additional genetic risks. Medical records may be requested for review if there is a significant family history or to document familial mutations for PGD.
Informed consent includes an in depth discussion of the PGD/PGT process, from beginning to end, and a review of the information in the consent form. For those who have already gone through IVF, the beginning of the process will be familiar. However, as complex as the process of IVF is, embryo testing adds yet another layer of complexity. As well as all the steps in the IVF process, additional steps include biopsy procedures, screening of a single cell for specific chromosome abnormalities, DNA markers, or gene mutations, and reviewing the results from the PGD/PGT report prior to embryo transfer.
Janine Mash, LCGC
Janine Mash has been a certified and licensed genetic counselor for over 10 years, specializing in preconception and prenatal counseling. Trained at the University of Colorado - Denver, Janine obtained an extensive background in laboratory testing before moving onto clinical work at Natera, UCSF, and Stanford.
On a personal level, Janine is a mother of four daughters. She is an advocate of evidence-based medicine and strongly believes everyone has the right to give birth where they feel most comfortable, supported by providers with their best interests at heart.
Janine Mash is licensed by the State of California and certified by the American Board of Genetic Counselors.