Options for Reproduction and Family Planning in Individuals with Genetic Cancer Conditions
In the world of hereditary cancer syndromes, managing both cancer risk and reproductive outcomes is a delicate balance. Here's how individuals can navigate this complex landscape, thanks to a range of modern family planning strategies.
First and foremost, in vitro fertilization (IVF), coupled with preimplantation genetic testing for monogenic disorders (PGT-M), offers a powerful tool to reduce the risk of passing on pathogenic gene variants to offspring. By selecting embryos without the hereditary mutation associated with the cancer syndrome, PGT-M minimizes the transmission risk significantly [2][1].
Another crucial strategy involves fertility preservation techniques. These include oocyte (egg) cryopreservation, ovarian tissue cryopreservation (OTC), and the use of gonadotropin-releasing hormone (GnRHa) therapy to protect ovarian function before cancer treatment, particularly in young women diagnosed with cancer associated with genetic predisposition [4].
Genetic counseling is another essential component of the family planning process. Genetic counsellors, healthcare providers specially trained to help people understand complex genetic information, educate, and provide support throughout the genetic testing process. They check personal and family history, explain risks, help understand test results, provide emotional support, assist decision-making, and work with other health experts to ensure appropriate care [3][1].
For patients undergoing fertility-preserving cancer treatments, such as those with Lynch syndrome-related endometrial cancer, early assisted reproductive therapies following treatment remission are recommended to optimize pregnancy outcomes and reduce cancer recurrence risks [2].
In some cases, prenatal genetic testing may also be considered alongside or following PGT-M to confirm embryo genetic status after implantation due to potential limitations of PGT-M accuracy such as embryonic mosaicism [2].
Risk-reducing surgeries may also be part of overall management, but they are typically planned considering family planning goals and the specific genetic mutation involved [1].
In summary, the integration of fertility preservation techniques, assisted reproduction with genetic testing (especially IVF + PGT-M), genetic counseling, and carefully timed reproductive plans constitute the common family planning strategies for individuals with hereditary cancer syndromes.
Adoption is another option that provides people with the opportunity to continue parenthood while ruling out the fear of genetic cancer syndromes. Examples of genetic cancer syndromes include hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer.
Genetic counsellors play a key role in helping individuals understand their cancer risk, providing tailored support, and creating awareness through advocacy and education. Increased awareness about the possibility of passing on an increased cancer risk and the possibility of consulting a healthcare specialist about this matter would enable the affected persons to make informed decisions regarding the most appropriate reproductive and family planning options.
- In the realm of hereditary cancer syndromes, a key tool to reduce the risk of passing on gene variants is in vitro fertilization (IVF), coupled with preimplantation genetic testing for monogenic disorders (PGT-M), as it minimizes transmission risk significantly.
- Another strategic approach focuses on fertility preservation techniques, such as oocyte (egg) cryopreservation, ovarian tissue cryopreservation (OTC), and the application of gonadotropin-releasing hormone (GnRHa) therapy for ovarian protection before cancer treatment.
- Genetic counseling is integral to the family planning process, with experts trained to help individuals understand complex genetic information, assess personal and family history, explain risks, interpret test results, offer emotional support, guide decision-making, and collaborate with healthcare providers for optimal care.
- For individuals undergoing fertility-preserving cancer treatments, early assisted reproductive therapies following treatment remission are recommended to enhance pregnancy outcomes and reduce cancer recurrence risks.
- In certain cases, prenatal genetic testing may be considered after PGT-M to confirm embryo genetic status following implantation, given possible limitations in PGT-M accuracy due to factors like embryonic mosaicism.
- Risk-reducing surgeries may be part of an overall management plan, but they should be planned carefully considering family planning goals and the specific genetic mutation involved.
- Adoption can serve as another pathway for parenthood, assuaging fears of passing on genetic cancer syndromes, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer.
- Genetic counselors contribute significantly by helping individuals comprehend their cancer risk, offering tailored support, and promoting awareness through advocacy and education, allowing affected persons to make well-informed reproductive and family planning decisions.
