Comprehensive telephone-based genetic counseling for all your genetic concerns as you consider treatment in reproductive medicine.
Some common reasons to pursue genetic counseling include:
- Family history concerns
- Consideration of PGT or post-PGT results consultation
- Donor gamete (egg, sperm, embryo) evaluation and risk counseling
- Carrier screening options/results
- General preconception counseling
We provide services to augment fertility treatment and genetic testing. In collaboration with your physician, we explain genetic risks and genetic testing options and help you make informed decisions about using such tests. In addition to the clarity it provides to you, this service is critical in the delivery of genetic testing options for your treatment team, enabling informed consent, appropriate coordination and interpretation of results for your use.
After your consultation, your physician will receive a summary letter documenting the counseling session and your family tree, if appropriate. If desired, I can also help coordinate recommended genetic testing and results counseling.
Further description of specific genetic counseling indications/services:
You may have a family history of a condition that has some genetic basis, or in which you are not sure of the heritability. In such cases, a family history assessment, calculation of genetic risks and explanation of your options for testing would be conducted.
Preimplantation genetic testing (PGT) is testing performed on embryos during an IVF cycle, to determine which embryos are expected to be healthy and which are expected to be affected with a specific genetic condition or chromosome abnormality. The testing can be tailored to a specific family's risk (when there is a single gene condition for which your future children are at risk), or can look at more "universal" risks for chromosome abnormalities. Deciding whether PGT is right for you can be complicated. This session will provide you with the information you need to make the best decision, and help you understand how the testing could impact your odds for pregnancy with IVF. Another common reason for a genetic consultation is to obtain a better understanding and help with decision-making after test results are received.
Donor genetic evaluation: This service includes an assessment of at least three generations of the donor's family health history by direct interview and review of relevant medical records. Review of genetic testing records and/or recommendations for appropriate genetic testing are included as part of this service.
Donor match consultation (for intended parents): This is a consultation for intended parents to explain any genetic risks identified with the donor consultation (which must be completed prior to this appointment), as well as review of other risks and testing options in pregnancy. Review of the family history of the other reproductive partner (i.e. intended father, intended mother) is assessed at this consult, if available.
Intended for the patient/couple interested in understanding options for carrier screening, as well as routine assessment of family history and relevant genetic risks. This service includes an assessment of carrier screening recommendations based on family history and couple ancestry/ethnicity. Recommendations for appropriate testing will be arranged as part of this service, and results counseling is included. Some patients schedule this consult after a routine screen shows a positive result, for clarification on risk status and additional testing options for the partner, or for consideration of risk and options after both reproductive partners are identified as carriers for the same condition.
You may not have a specific question, but wish to have a routine evaluation to determine whether there are risks you have not considered prior to a pregnancy, and to explore the testing options for genetic conditions that are available during pregnancy today. Genetics is advancing at an incredible rate, and taking some time before a pregnancy to contemplate whether testing options would be helpful to you is certainly a great (and proactive) idea.