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.
Lauri Black, MS, LCGC, Licensed Certified Genetic Counselor, PFC Director of Clinical Genetics
Lauri has been a practicing genetic counselor since 1998 prior to completing her graduate program at the University of California Berkeley, and has been board certified by the American Board of Genetic Counseling since 1999. Lauri has worked in reproductive genetics for her entire career, providing genetic counseling for male and female factor infertility, preimplantation genetic testing, and prenatal diagnosis. Most of that time, she has worked directly with many of the physicians at Pacific Fertility Center. She began her career at University of California San Francisco's Medical Center and then moved to California Pacific Medical Center in late 2001. In December of 2010, Lauri started a private practice and is now working more closely with the providers and patients at PFC as an in-house genetic counselor.
Carmela Thompson, MS, LCGC, Licensed Certified Genetic Counselor
Carmela has been a practicing genetic counselor since 2011 prior to completing her graduate program at California State University, Stanislaus, and has been board certified by the American Board of Genetic Counseling and licensed by the state of California since 2012. Carmela started her career in genetics in 1997 creating custom genes in Operon Technology's laboratory, followed by joining Qiagen Co. as a Field Application Scientist in diagnostic genetic testing. In January of 2012, Carmela started a private genetic counseling practice, and came to PFC as an in-house genetic counselor in 2013.
Genetic testing of embryos is the main reason your physician would refer you to Lauri or Carmela for a consultation. 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. Lauri and Carmela provide the required consultation for each of these services prior to the start of your cycle. The information and discussion from this consult fosters full informed consent of these complex procedures and the possible outcomes.
Lauri also provides genetic risk assessment for all of the prospective ovum donors for Pacific Fertility Center's Egg Donor Agency.
Our genetic counselors are available to provide genetic risk assessment by request, even if a patient is not including embryo testing or using an ovum donor in their cycle. Some patients may have questions about conditions in their families, and what impact that history may have on their or their children's future health. For questions or concerns about family health history, review them with an infertility doctor and they may feel the option of a genetic risk assessment consultation is appropriate.