PFC's Genetic Counselor Speaks at Conference in Italy

Last May in Bologna, Italy, Pacific Fertility Center staff attended the 15^th

“This conference is the best place for us to learn about the most up-to-date and emerging technologies in the embryo testing arena, said Lauri Black, MS, licensed certified genetic counselor at Pacific Fertility Center (PFC). Ms. Black was a featured speaker as well, giving a presentation on the benefits of genetic counseling—and providing an overview of how to integrate genetic counseling into IVF practices and augment the care clinicians are already providing their patients. Dr. Carolyn Givens was one of the attendees at the meeting. According to Dr. Givens, “Lauri’s talk was very well-received by the audience and many attendees asked her about how to best incorporate genetic counselling into their practices, as PFC already does.”

PFC: A Leader in Genetics

Ms. Black has been a genetic counselor in the field of reproductive medicine for nearly 19 years, working with PFC in one form or another for essentially her entire career. She’s counseled for male and female factor infertility, preimplantation genetic testing, prenatal diagnosis, and more recently genetic risk assessment for potential egg donors.

“When it comes to genetics, PFC has been on the cutting edge for a long time,” said Ms. Black. “Recognizing the significant role that genetics plays in reproductive medicine, PFC offers a lot of genetic testing, including preimplantation genetic screening (PGS) and carrier screening for our patients and their egg donors. We’re a bit unique in this regard, but I wish we weren’t. I wish this were more the standard in this field of medicine.”

With 2 genetic counselors on staff, PFC is also forward thinking in terms of genetic counseling. “It’s part of the process of testing embryos at PFC because we want patients to be fully informed,” said Ms. Black.

The Special Role of Genetic Counselors

At the conference, Ms. Black spoke to an audience that included individuals who are heavily involved in genetic testing of embryos. “However,” she said, “many audience members were reproductive endocrinologists or people in other areas of assisted reproductive medicine who may not be as attuned to the main reasons a genetic counselor can be helpful in their practice.”

Seeing the big picture. Ms. Black’s interaction with audience members illustrated the importance of this specialized expertise. For example, one audience member did not seem to grasp the distinction between cancers due to an identified genetic mutation within an individual or family and the great majority of cancers, which are thought to be multifactorial—due to the interplay of various environmental and biologic factors.

“This highlighted how a genetic counselor’s knowledge base is key to offering genetic services in an effective and accurate way within a reproductive medicine practice,” she said. “Even people who are experts in embryo testing may not be able to see that bigger picture because it’s not where their training lies.”

Explaining complex information. Genetic counselors are also specifically trained to explain complex genetic information and testing procedures to patients at a level that they can understand, said Ms. Black. When interacting with patients from other centers who’ve either been counseled by a genetic counselor or by another clinician, Ms. Black has seen a “stark difference” in patients’ level of understanding and recall about those conversations.

Assessing genetic risks. Another critical role for genetic counselors involves uncovering any patterns of genetic conditions by taking thorough family histories. This may lead to additional testing for the patient and, if warranted, further testing of the embryos. “Without taking the family history and testing the patient, we might not be aware of these potential problems in the embryo,” said Ms. Black. “These aren’t common, but we feel this assessment is appropriate. That’s because we are perfectly perched to address any additional genetic risk that is identified.”

Adding value. Ms. Black also addressed other assets of the genetic counselor. These include being available to the patient for specialized and individual care; acting as a liaison between lab personnel, the IVF clinic, and the patient; keeping the IVF practice informed and up to date about genetics in general and the specifics of certain cases; and keeping patients well informed about different types of genetic testing.

Explaining the Benefits and Limitations of Genetic Testing

Informed consent, said Ms. Black, involves helping patients understand the benefits and limitations of genetic testing, including PGS and preimplantation genetic diagnosis (PGD).

PGS. PGS, (also known as “CCS” or Comprehensive Chromosomal Screening) screens for chromosomal abnormalities (aneuploidy). This is very helpful because transplanting chromosomally normal (euploid) embryos increases implantation, pregnancy, and birth rates and decreases rates of miscarriage.^1,2,3

At PFC, PGS is becoming a standard offering for anyone doing in vitro fertilization (IVF), said Ms. Black. “We find it tends to benefit most of the patients who are in their 30s or 40s, but we’re even seeing a benefit for younger women and for those using an egg donor.” However, the test is not able to spot single-gene disorders or all birth defects, she said.

PGD. Often offered along with PGS, PGD tests for single-gene disorders, which are rarer and tend to be inherited. This testing significantly reduces the risk of specific single gene disorders, such as cystic fibrosis, Huntington disease, Tay Sachs disease, sickle cell anemia, and many others.

Limitations of embryo testing. Genetic testing does not have a 100 percent detection rate for aneuploidy or single gene mutations. Also, it cannot detect:

• Birth defects unrelated to these 2 problems
• Developmental or cognitive disabilities such as autism
• Adult-onset conditions that are due to a variety of factors such as diabetes, heart disease, and most types of cancer

There are other limitations: “Sometimes embryos do not grow in the laboratory to the point where we can test them,” said Black. “Or, we may test embryos but none of them have normal results, which means the patient doesn’t have embryos to transfer for that cycle.”

Prenatal screening. Given the limitations of embryo testing, the genetic counselor informs patients about the importance of prenatal testing. Prenatal testing is performed during a pregnancy and there are various testing methods that are available, such as ultrasound, maternal blood tests, chorionic villus sampling (CVS) or amniocentesis. “However, for patients, prenatal screening often feels like something in the distant future,” said Ms. Black. “I assure them that they don’t need to remember everything I tell them, and that they will have another opportunity to review prenatal testing options with their OB/GYN and prenatal genetic counselor.”

All PGD labs recommend confirmatory prenatal testing after transferring an embryo with normal PGD or PGS results, said Ms. Black. “We all recognize the limitations in testing a tiny sample of cells from the embryo, and the small possibility that these few cells don’t represent all the cells that will develop into the fetus.”

In addition, prenatal testing is helpful because it can find things that embryo testing cannot. “For example, there are birth defects that are unrelated to chromosomal abnormalities,” said Ms. Black. “An isolated heart defect happens in roughly 1 percent of fetuses, and most of those have normal chromosomes.” This is something that can be evaluated with prenatal ultrasound—one of several types of prenatal testing that also includes amniocentesis and chorionic villus sampling (CVS).

To the Benefit of Patients

For any patients who may question the need for genetic counseling, Ms. Black reassures them that it is offered with their needs in mind. “I’d like for patients to fully understand that we consider genetic counseling a key part of their care at our clinic.”

Sources

1. Yang Z et al. Mol Cyto. 2012.5:24.
2. Scott RT et al. Fertil Steril.2013;100(3):697–703.
3. Forman EJ et al. Fertil Steril.2013;100(1):100–107.

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