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Reproductive Options And Family Planning For People With Genetic Cancer Syndromes
Published on: August 1, 2025
Reproductive Options And Family Planning For People With Genetic Cancer Syndromes
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Chukwukaodinaka Esther Onyinye

Bachelor of Pharmacy - B.Pharm, Usmanu Danfodiyo University Sokoto, Nigeria

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Liam Thomas

MSc Biology, Lancaster University

Introduction

Genetic cancer syndromes can be referred to as hereditary cancer syndromes. Genetic cancer syndromes are caused by changes in genes (mutations) that are passed on from affected people to their offspring, increasing their risk of developing certain types of cancer. The mutated genes are initially involved in protecting the body from cancer. However, the mutations cause cells to grow out of control and become cancerous. Genetic cancer syndrome develops at an early age in many people.1

Examples of genetic cancer syndromes that can be inherited 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.1,2,3 

This article will explain the role of genetic counsellors and the reproductive and family planning options available for people with genetic cancer syndrome. 

Genetic testing and risk assessment

Genetic counselling and risk assessment are important in helping people with a history of inherited cancer – genetic cancer syndrome – understand their personal risk of getting cancer, potential risk for their children, and what can be done about it.2,4

What are the roles of genetic counsellors?

Genetic counsellors are healthcare providers and are specially trained to help people understand complex medical terms and information related to genetics. Additionally, genetic counsellors educate and provide support throughout the genetic testing process.4

Genetic counsellors work with people experiencing genetic cancer syndrome through their management process:4,5

  1. They check your personal and family history and whether there is any history of cancer in your family
  2. They explain the risks to you in simple terms and discuss the importance of genetic testing
  3. They help you understand what the test results mean and provide emotional support following the outcome of the test results
  4. They assist your decision-making by recommending options such as increased screening, lifestyle changes, and preventive treatment
  5. They work as a team with other health experts to ensure you get the appropriate care you need

In essence, genetic counselling is a combination of having the right medical information, emotional support and clear advice that is designed for you and your family. Genetic counselling supports and assists people in making informed choices regarding their health when facing inherited cancer risks.4 

How is the cancer risk passed on?

Most of the inherited cancers follow a pattern called autosomal dominant inheritance, which implies that a parent with a mutated gene presents an equal likelihood of passing it on to each of their children. While in some cases, it requires both parents having the mutated genes in order to cause genetic cancer syndromes in their children, which is described as autosomal recessive inheritance. Genetic counsellors explain these inheritance patterns and provide the relevant reproductive and family planning options.2,4,6     

When to get counselling

There are two stages to genetic testing that could require the help of a genetic counsellor:4,5,6

  1. Pre-test counseling occurs before genetic testing. It will help individuals make informed decisions and prepare for the possible outcome of the test
  2. Post-test counseling occurs after genetic testing. The counsellors help interpret the results of the test and discuss available options, aiming to improve the individual's health

In some cases, genetic counselling is most effective before family planning and before cancer screening. Early counselling helps people take the optimum steps to reduce their risk, such as regular check-ups, lifestyle changes, or preventive surgery.4,5,6

Reproductive options for people with genetic cancer syndromes

Individuals with inherited cancer syndrome could have to make tough decisions regarding family planning, considering the likelihood of their children inheriting mutated genes.3 This section will discuss several reproductive options available and their benefits, but also some concerns.

Postnatal testing

If one of the parents was already diagnosed with cancer, what are the chances that their offspring will develop cancer? They might fear that their child to develop paediatric cancer, so that is why they would be interested in testing the newborn as soon as possible. Postnatal testing for genetic cancer syndromes can be completed after the birth of a child, as a complementary screening program when the child might be at risk of developing a paediatric cancer syndrome. This genetic newborn testing could have a positive impact on the prevention-screening measures, or management and treatment of the disease.7 

Prenatal testing

Prenatal testing for genetic cancer syndromes can be completed during pregnancy to check whether the unborn child has inherited any mutated genes. Prenatal testing can be completed through methods like chorionic villus sampling and amniocentesis. Prenatal testing helps parents make decisions regarding their unborn child, for example, to continue with the pregnancy or seek special care if the child is carrying the altered gene.8,9

Preimplantation genetic testing (PGT) and in-vitro fertilisation (IVF)

Preimplantation genetic testing (PGT) allows sperm and egg cells to be joined through in vitro fertilisation (IVF). After the sperm fertilises the egg, the embryos are tested for the altered genes. IVF allows couples to select embryos that did not inherit mutated genes before they are transferred into the womb.9,10

Donor’s sperm or eggs

In cases where one partner carries the mutated gene, or they have already survived a cancer but now present fertility issues, they could use donated sperm or eggs without the mutated genes and transfer the embryos after IVF, into the womb. Sperm or egg donation reduces the stress couples face following prenatal genetic testing and the concerns caused by the process of seeking preventive interventions for their children.11,12

Adoption

Adoption is another option that provides people with the opportunity to continue parenthood while ruling out the fear of genetic cancer syndromes.9,12

Summary

In summary, reproductive options and family planning for individuals with genetic cancer syndromes may require genetic testing complemented by genetic counselling sessions designed to meet their specific needs, providing explanations regarding the possibility of passing on an increased risk of cancer to their offspring.  

Healthcare providers, besides caring for the management and treatment of cancer, support individuals with genetic cancer syndromes through effective reproductive counselling and family planning. Genetic counsellors play a key role in helping individuals understand their cancer risk, providing tailored support, and creating awareness through advocacy and education. 

Therefore, 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. 

References

  1. Imyanitov EN, Kuligina ES, Sokolenko AP, Suspitsin EN, Yanus GA, Iyevleva AG, et al. Hereditary cancer syndromes. World J Clin Oncol [Internet]. 2023 [cited 2025 Jul 28]; 14(2):40–68. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993141/. 
  2. Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793. Obstet Gynecol [Internet]. 2019; 134(6):e143–9. Available from: https://pubmed.ncbi.nlm.nih.gov/31764758/ ; https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2019/12/hereditary-cancer-syndromes-and-risk-assessment. 
  3. Silva E, Gomes P, Matos PM, Silva ER, Silva J, Brandão C, et al. “I have always lived with the disease in the family”: family adaptation to hereditary cancer-risk. BMC Prim Care [Internet]. 2022 [cited 2025 Jul 28]; 23:93. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034526/. 
  4. Alliance G, Health D of CD of. Genetic Counseling. In: Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals [Internet]. Genetic Alliance; 2010 [cited 2025 Jul 28]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK132139/. 
  5. Schienda J, Stopfer J. Cancer Genetic Counseling—Current Practice and Future Challenges. Cold Spring Harb Perspect Med [Internet]. 2020 [cited 2025 May 26]; 10(6):a036541. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263095/.
  6. Ulhaq E, Huda F, Suhail C, Sheth H, Anu RI. Narrative review on genetic counseling for hereditary cancers: General considerations. Cancer Research, Statistics, and Treatment [Internet]. 2023 [cited 2025 May 26]; 6(2):239–47. Available from: https://journals.lww.com/10.4103/crst.crst_16_23.
  7. Yeh JM, Stout NK, Chaudhry A, Christensen KD, Gooch M, McMahon PM, et al. Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights. Genet Med [Internet]. 2021 [cited 2025 Jul 29]; 23(7):1366–71. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263476/.   
  8. Rosenblum LS, Auger SM, Zhu H, Zhou Z, Xin W, Reiner J, et al. Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk. The Journal of Molecular Diagnostics [Internet]. 2024 [cited 2025 Jul 29]; 26(3):202–12. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1525157823003124
  9. Dewanwala A, Chittenden A, Rosenblatt M, Mercado R, Garber JE, Syngal S, et al. Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch Syndrome. Fam Cancer [Internet]. 2011 [cited 2025 Jul 29]; 10(3):549–56. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3233843/.
  10. Albujja MH, Al-Ghedan M, Dakshnamoorthy L, Pla Victori J. Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges. Cancer Pathog Ther [Internet]. 2023 [cited 2025 Jul 29]; 2(1):1–14. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846329/. 
  11. Somigliana E, Costantini MP, Filippi F, Terenziani M, Riccaboni A, Nicotra V, et al. Fertility counseling in women with hereditary cancer syndromes. Critical Reviews in Oncology/Hematology [Internet]. 2022 [cited 2025 Jul 29]; 171:103604. Available from: https://www.sciencedirect.com/science/article/pii/S1040842822000282. 
  12. Filippi F, Peccatori F, Manoukian S, Clerici CA, Dallagiovanna C, Meazza C, et al. Fertility Counseling in Survivors of Cancer in Childhood and Adolescence: Time for a Reappraisal? Cancers (Basel) [Internet]. 2021 [cited 2025 Jul 29]; 13(22):5626. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615855/. 
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Chukwukaodinaka Esther Onyinye

Bachelor of Pharmacy - B.Pharm, Usmanu Danfodiyo University Sokoto, Nigeria

I am an intern pharmacist in the hospital sector that is passionate about promoting health and wellbeing, particularly for mothers and children. With a strong passion for addressing health inequalities, I have actively sought out opportunities to contribute to meaningful initiatives.

Notably, I have taken on research assistantship roles in reputable health organizations, where I have gained valuable experience in data collection, analysis, and interpretation. Additionally, I have honed my writing skills by crafting engaging articles for these organizations.

I am committed to ongoing learning and professional growth, striving to become a leading voice in the field of pharmacy and public health.

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