Families turn to genetics prevention as Duchenne therapies stall | DMD Day expert interview

Despite decades of research and the approval of several therapies to help manage symptoms, there is still no cure for Duchenne muscular dystrophy (DMD). Prevention through genetic testing, such as carrier screening, remains the most effective for families at risk. Prevention is always better than treatment.

This year's DMD Awareness Day theme is "Family: The Heart of Care". It is a reminder that genetic insight not only guides early interventions for affected children but also empowers families in making informed decisions for future pregnancies.

We spoke with Prof. Tran Van Khanh, Director of the Center for Gene-Protein Research and Head of the Department of Molecular Pathology at Hanoi Medical University, Vietnam. With decades of experience counseling families affected by inherited conditions, she shared her perspective on prevention, diagnosis, and family planning for DMD.

DMD Remains Incurable

DMD is a devastating and fatal neuromuscular disease, affecting 1 in every 5,000 newborn boys. It is characterized by the relentless progression of muscle weakness, leading to a loss of the ability to walk by age 12. The disorder impacts the heart and lungs, as cardiomyopathy and respiratory failure are major causes of death. Despite advances in care that have pushed average life expectancy into the early 30s, DMD remains a universally fatal condition with no cure.

Many pharmaceutical companies have invested in gene therapies for DMD, but success has yet to be achieved. Research shows that the average age of DMD diagnosis is still between 4 and 5 years, often delayed by up to two years after symptoms first appear.

Recent setbacks in global gene therapy efforts underline the difficulty of finding a cure. After safety concerns, the U.S. FDA revoked Sarepta's platform technology designation for muscular dystrophy. In Europe, the EMA rejected Roche's gene therapy, while Pfizer discontinued its Phase 3 trial after it failed to meet endpoints.

Carrier Screening Often Overlooked

"Carrier screening is the most important step for preventing inherited disease, and it can be done effectively," said Prof. Khanh. "This step is often overlooked because many families don’t realize its importance before pregnancy."

While genetic testing does not offer a cure, it fundamentally changes care and planning. Proactive early management such as cardiac monitoring and corticosteroid treatment can begin soon as diagnosis. With the knowledge from genetic testing, families and clinicians can prepare comprehensive prevention plans to lower the chance of recurrence while ensuring better outcomes for current patients.

"In Vietnam, some families come for genetic counseling very late because they wait for their child's test results first," Prof. Khanh noted. "Shorter turnaround times would help us support families better."

Families Turn to Genetic Testing

For many families, the road to a diagnosis is painfully slow as nearly half wait more than two years.

For many families, the road to a diagnosis is slow; nearly half wait more than two years. Prof. Khanh recalls the Chu family, who arrived after countless hospital visits without answers. Both young sons had progressive muscle weakness. Suspecting an inherited cause, Prof. Khanh recommended whole-exome sequencing (WES). The test found a CHKB mutation causing another form of muscular dystrophy with progressive muscle fiber degeneration.

"Because this condition is autosomal recessive, each pregnancy carried a 25% chance of being affected when both parents are carriers," she explained.

For families with a history of DMD, prenatal testing is essential. Chorionic villus sampling (CVS) can be performed between 11 and 13 weeks, while amniocentesis is typically done between 15 and 20 weeks. This timeline provides definitive results, empowering families to make informed reproductive decisions.

With a clear diagnosis, the Chu boys began targeted care to slow progression. The parents also gained options for future pregnancies. Through IVF with embryo testing, they later welcomed a healthy baby boy. Watch the Chu family's interview.

Prevention Remains Key

"Prevention matters more than treatment because not all mutations are treatable, and gene therapy is very expensive, and many families cannot afford it," Prof. Khanh emphasized.

As we mark DMD Awareness Day, it is a powerful reminder that every family deserves the chance to act early, armed with accurate and affordable genetic information. With recent global setbacks in gene therapy, prevention and early detection remain the strongest tools we have against Duchenne muscular dystrophy.

High-throughput technology-powered genetic screening, such as BGI Genomics' VISTA™ Carrier Screening, offers families actionable insights. This tool empowers parents to make informed choices, plan pregnancies responsibly, and secure early interventions that can improve long-term outcomes. Raising awareness today reinforces the urgent need to bring these solutions within reach for more families worldwide, ensuring that knowledge becomes the first step toward protection and hope.

About BGI Genomics' VISTA™ Carrier Screening

The VISTA™ Carrier Screening uses Next Generation Sequencing (NGS) technology to identify individuals or couples at risk of passing on a genetic condition to their child, offering multiple panel options (Mini, Targeted, & 1200+). The latest 1200+ panel product can detect more than 1200 genetic disorders.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.