Early screening saves children from premature heart disease | World Heart Day

Inherited heart conditions place millions of children at risk from birth. Up to 80% of premature cardiovascular deaths are preventable with early screening and healthier lifestyle options, according to the World Heart Federation.

Without early detection, conditions such as congenital heart defects and familial hypercholesterolemia (FH) can quietly disrupt growth, energy levels, and long-term organ function.

Whole Genome Sequencing (WGS) can detect these risks at the earliest possible stage. It shifts cardiac care away from crisis management toward proactive, precision prevention.

September 29 is World Heart Day. It serves as a reminder that early detection of genetic risks is key to lifelong heart health.

Inherited Risks

Congenital heart defects (CHDs) are structural abnormalities present at birth. It affects about 1 in 100 newborns worldwide, making it the most common birth defect. Their impact extends beyond families, placing a heavy burden on healthcare systems globally. CHDs often require complex and costly interventions, with outcomes that depend heavily on early diagnosis and treatment.

Familial hypercholesterolemia (FH), a genetic disorder causing dangerously high cholesterol from birth, remains vastly underdiagnosed. This leaves children at high risk of premature heart attacks and strokes. In the United States, data show that only about 11% of eligible youth receive the guideline-recommended lipid screening between ages 9 and 11, presenting a critical gap in preventive care.

"Many times, families do not understand that the cardiovascular disease running through generations can be managed with early diagnosis," explains Katherine Wilemon, founder and CEO of the Family Heart Foundation. Without screening, children with FH often live unaware of the silent danger, as cholesterol begins to clog arteries in childhood, setting the stage for cardiovascular events decades earlier than average.

Undiagnosed Heart Diseases

The consequences of delayed diagnosis go beyond future heart attacks or strokes—they can also impair daily life. A child with an undetected CHD, like Millie Haenlein, may simply appear "a little smaller and slower" than peers. They may lack stamina for physical activity, needing frequent breaks during play or sports—signs too often dismissed as being less athletic. These limitations affect not only fitness but also social inclusion. More critically, the heart must work harder to compensate, straining the cardiovascular system and, in severe cases, hindering other organ development.

FH presents differently. While it may not cause obvious childhood symptoms, vascular damage is already underway. This silent process reduces physical capacity and raises the risk of life-threatening events in early adulthood. Early identification is therefore not just about preventing death—it protects a child's right to full, active, and healthy development.

WGS Provides a Proactive Blueprint

If genetic tests such as WGS were integrated into newborn screening programs, more children with inherited cardiovascular diseases could be identified early and receive life-saving care. Initiatives like the Family Heart Foundation's LEAD campaign advocate for universal FH screening, moving from reactive treatment to true prevention. Screening all children is critical, since most with FH show no symptoms. Relying only on family history misses many at-risk cases.

Services like BGI Genomics' WGS, enabled by high-throughput sequencing, decipher the complete genetic code at birth, creating a lifelong health blueprint. This makes it possible to identify markers for a wide range of inherited heart conditions. Beyond structural risks, WGS can uncover predispositions that enable immediate, personalized interventions.

Cardiovascular disease is not always lifestyle-driven. In many cases, it is inherited. While current screening guidelines are a step forward, inconsistent application leaves too many children unprotected. By integrating WGS into newborn screening programs, every child, regardless of family history or physician vigilance, can have their genetic risks recognized from the very beginning.

About BGI Genomics' Whole Genome Sequencing (WGS)

BGI Genomics' Whole Genome Sequencing (WGS) service detects the complete genome sequence at one time and provides a high-resolution, base-by-base view of the genome. This enables researchers to see both large and small variants and identify potential causative variants for further follow-on gene expression or regulation mechanism studies.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Its services cover more than 100 countries and regions, involving more than 2,300 medical institutions and 10,000 employees worldwide. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) officially began trading on the Shenzhen Stock Exchange.