The Importance of Genetic Counseling
by Amy Vance, MS, LCGC
What is genetic counseling?
Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.
This process integrates:
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Education about inheritance, testing, management, prevention, resources and research.
Counseling to promote informed choices and adaptation to the risk or condition.
The purpose of the genetics consult for ovum donors
Ovum donors are typically screened through the use of a family history questionnaire as part of their profile, usually focusing only on first degree relatives and grandparents. The majority of questionnaires omit half siblings, nieces, nephews, aunts, uncles, and cousins.
Most gamete donor programs do not utilize genetic counseling services for family history risk assessment (hereafter called genetic risk assessment, or GRA) and do not obtain a three generation pedigree (family history). If a donor has a positive genetic test result, many donor agencies do not refer for genetic counseling and do not adequately address the implications for the donor and her family.
The benefits to intended parents
Having a thorough review and interpretation of the family medical history helps ensure that intended parents have not only complete information but also interpretation of potential risks to their offspring.
A copy of the family tree, or “pedigree”, is provided to the intended parents for their records. For a couple using an anonymous gamete donor, this may be the most detailed information they receive about the medical history of their offspring’s family.
Sometimes there is new information that comes up during the genetics consult that was not elicited by the profile, or there is a genetic test result on the donor which is positive. These are difficult circumstances that on occasion lead to the intended parent deciding not to go forward with the donor. Knowing this information prior to a pregnancy and having the opportunity to make decisions accordingly is important.
Risk assessment includes
Donor’s pregnancy history
Donor’s health history
Family history of mental retardation or birth defects
Personal or family history of stillbirth/miscarriage/neonatal death
Why is ethnicity important?
In almost every population or ethnic group, certain genetic conditions occur more frequently than in the general population. Once a genetic mutation occurs in an individual or population, it is conserved from generation to generation over many years as people mate and marry with partners from the same geographic region or racial background as themselves.
Specific conditions occur more commonly in different ethnic groups. All are inherited in an autosomal recessive fashion, meaning that both parents have to be carriers for the same condition in order to have an affected child. While the carrier rate is highest in the below mentioned groups, a person of any ethnic group can be a carrier for any disease.
The only way to know if someone is a carrier for a recessive disorder is to have carrier screening. Why don’t all ovum donors have a genetic risk assessment? There are currently no regulations requiring a genetics consultation/family history risk assessment for ovum donors.
In my practice I have attempted to promote awareness and utilization of the GRA for ovum donors. I have encountered barriers such as:
Limited or no awareness of what the GRA is and how it is useful to donor programs, intended parents and IVF physicians.
Perception that genetic testing is the same as the GRA.
Donor agencies may perceive that the GRA will complicate the donation process or will confuse or scare the intended parents away from certain donors. In my practice I have found the opposite to be true.
There are no requirements for GRA by the American Society of Reproductive Medicine at this time.
In summary, family history risk assessment for ovum donors by a genetic counselor using a three generation pedigree provides enhanced information to the ovum donor program to allow them to better screen their donors. It allows recipient couples make informed decisions about potential genetic risks prior to donor selection and pregnancy and allows them to take advantage of technology such as PGD. It enhances the quality of service that is provided to the intended parent.
At this time, some donor agencies do provide a GRA for matched donors. This information may be collected and provided to the IVF doctor for review with the intended parent or sometimes it is provided to the intended parent. Intended parents can empower themselves by asking their donor agency/IVF center whether a GRA has been performed, and whether they can obtain a copy for their records.
If a GRA has not been performed, intended parents can request that this occur. If more intended parents see the value in the GRA and request that it be done, it may become standard practice in the future.