How this paediatrician is helping families tackle rare diseases

Published on 24 April 2024

Dr Chin Hui-Lin, a beacon of compassion for families dealing with rare diseases, not only provides treatment but also offers resources to empower them.

In Singapore, it is estimated that about 3,000 people live with a rare disease, of which more than half are children. “A third of these children pass away before they turn five years old,” said Dr Chin Hui-Lin, a pediatrician who specialises in rare diseases at National University Hospital’s (NUH) Khoo Teck Puat – National University Children’s Medical Institute (KTP-NUCMI).

For a disease to be considered “rare”, it must be a condition that affects fewer than one in 2,000 individuals. According to Dr Chin, there are about 7,000 known rare diseases. 

In identifying or detecting rare diseases, Dr Chin shared how “genetic disorders can occur in patients with or without a positive family history.” She clarified that while some individuals might inherit a rare genetic disorder from an affected parent, in some cases it may be a new genetic variant that arises in an affected patient. There is also the possibility that a person inherited a combination of genetic variants from asymptomatic carrier parents, resulting in a disease. 

While it is easy to assume genetic diseases are typically diagnosed at birth, the reality is that many have signs or symptoms that only present later in life. 

Presently, a range of tests are available to detect genetic variants for diagnosing potential genetic diseases. These tests depend on the patient’s indicators or symptoms and may involve blood, swabs, hair samples or biopsies from the patient. 

If you’re thinking an online “DNA test” might reveal genetic mutations, you may want to reconsider. Dr Chin noted that these direct-to-consumer tests are done for “non-medical recreational purposes, such as understanding your ancestry or personal well-being.” She shared that clinical genetic tests are more robust and comprehensive with the goal of producing a medically actionable – and reproducible – result. Direct-to-consumer tests can have varying quality, coverage and scientific reliability that are inconsistent, making them a poor choice for diagnosing, preventing, or treating medical conditions.

More than just a field of study

Dr Chin serves as a consultant to several departments within the National University Health System (NUHS), including the Division of Genetics and Metabolism, Department of Paediatrics at KTP-NUCMI in NUH and the National University Centre for Women and Children (NUWoC) Children’s Clinic at the Ng Teng Fong General Hospital (NTFGH).

When asked about her interest in genetics and rare diseases, she shared, “I have always been intrigued by how our genes influence our health.” She found her passion bolstered by the excitement surrounding the completion of the Human Genome Project in 2001 and was influenced to participate in projects about genetics from as early as secondary school and junior college.

Tackling the exploration of rare diseases has been more than just the science for Dr Chin.

Even so, the most rewarding aspects of her job can bring the biggest heartache. She admitted that the emotional aspect of helping patients and families come to terms with severe incurable genetic disorders can be difficult. 

She cited an example of speaking to expectant couples with genetic risks due to an identified fetal anomaly. While challenging, she does her best to manage patient distress while covering the necessary details.

“I imagine myself in their shoes and think about how I would hope for the medical information to be addressed with me.”

Her efforts to support her patients go beyond compassion in relaying essential information. Battling rare diseases can be an incredibly isolating journey, which is why she offers her patients resources that enable them to connect with others who are going through similar experiences, be it at home in Singapore or abroad.

While treatments for various rare diseases do exist, the diseases themselves can be tough or expensive to diagnose and treat. It is Dr Chin’s dream that high quality genetic counselling, analysis and treatments can be easily accessible and available to all patients who need it.

“I hope that one day we can efficiently and cost-effectively diagnose and treat rare diseases early on, optimise patient’s outcomes and improve quality of life.”

In consultation with Dr Chin Hui-Lin, Consultant, Division of Genetics and Metabolism, Department of Paediatrics, KTP-NUCMI, NUH; Consultant, NUWoC Children’s Clinic, NTFGH; Assistant Professor, Department of Paediatrics, Yong Loo Lin School of Medicine, NUS.