Family’s Fight Against FAP: IVF and Expanded Genetic Testing Offer Hope for a future Free of Inherited Cancer Risk
Singapore is expanding access to pre-implantation genetic testing, offering families like the Lees a pathway to prevent the transmission of devastating inherited diseases. As of October 31st, 13 additional severe genetic conditions can be screened for.
Fertilization (IVF), providing a crucial option for prospective parents. This comes as a local woman shares her decades-long battle with familial adenomatous polyposis (FAP), a rare genetic condition that dramatically increases the risk of colorectal cancer.
Felicia Lee,now 42,was just 12 years old when she received her diagnosis. FAP causes the development of hundreds, or even thousands, of polyps in the colon and rectum.By age 15, she required the removal of part of her colon. “I was told before the surgery that I would have to have a stoma bag for at least three months. At that time, I did not really know what it meant. I was not too worried,” Lee recalled. she even attended school with the stoma bag concealed under her uniform, adjusting her diet and physical activity to manage the condition.
FAP affects approximately one in 8,000 people and is caused by mutations in the adenomatous polyposis coli (APC) gene, a critical tumor suppressor. thes mutations disrupt normal cell growth control, leading to the proliferation of polyps. While initially non-cancerous, these growths significantly elevate the risk of developing colorectal cancer, frequently enough at a young age.
The Lee family’s story underscores the importance of cascade testing, a process of screening relatives for the genetic mutation after a diagnosis within the family. According to Associate Professor Joanne Ngeow, head of the Cancer Genetics Service at the National Cancer Center Singapore, cascade testing “enables early diagnosis, prevention and treatment before symptoms appear.” Following her father’s diagnosis while stationed overseas with the Singapore Armed Forces, Ms. Lee, her younger sister, and two cousins where all found to carry the FAP gene, all before the age of 15.
With a 50% chance of passing on the mutated APC gene to a child, Ms. Lee and her husband, Cedric Ng, opted for IVF with pre-implantation genetic testing when they decided to start a family in 2022. “IVF provided a platform for genetic screening, and we went through pre-implantation genetic testing to ensure that our baby will not have the FAP defect before the embryo was implanted,” she explained. The couple underwent two rounds of IVF before welcoming their daughter, Phoebe, now one year old.
Ms. Lee’s pregnancy was elaborate by her condition, requiring delivery via Caesarean section at Singapore General Hospital with her colorectal doctors on standby. She was readmitted three days later due to intestinal obstruction, requiring a week-long hospital stay. “Going through all those challenges makes our daughter all the more precious,” she said.
The expansion of pre-implantation genetic testing in Singapore reflects a growing understanding of the role of hereditary factors in cancer. Approximately 5% to 10% of all cancer cases in Singapore are linked to inherited genetic mutations. Colorectal cancer, the most common cancer in men and the second most common in women, is frequently enough a “silent killer” due to its lack of early symptoms. Approximately 1,200 new cases are diagnosed annually.
Prof. Ngeow emphasizes that while routine screening is recommended for individuals aged 50 and above, those with a family history of colorectal cancer or a diagnosis before age 50 should discuss genetic testing with their physician. “Individuals at high risk…should come in for a discussion on whether they need genetic (testing). We will also follow up with what we call cascade testing of the rest of the family,” she stated.
For Ms. Lee, the journey has been about more than just preventing the transmission of FAP to her daughter; it’s about ensuring the condition ends with her generation. Her story is a testament to the power of genetic screening, proactive healthcare, and the unwavering hope for a future free from the shadow of inherited disease.
