On Tuesday, 3billion, a leading artificial intelligence (AI) driven rare genetic disease diagnostics company, unveiled its new family-oriented precision genomic diagnostic test called the Family Insight Test.
This innovative service utilizes Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) analysis to provide comprehensive genetic diagnostics for individuals and families who have experienced difficulties during pregnancy and childbirth or have a genetic family history.
While 3billion has previously focused on identifying genetic causes of rare diseases in patients with unexplained symptoms, this new offering expands their proprietary AI genetic variant interpretation technology to enable families to proactively assess genetic risks.
The Family Insight Test is specifically designed for high-risk families, including couples struggling with unexplained infertility or recurrent miscarriages, cases where patient specimens are difficult to obtain and family-based alternative diagnoses are necessary, and individuals seeking to evaluate their risk due to a family history of genetic disorders.
An additional feature, called Carriership Finding, is also available as part of the service.
Unlike conventional carrier screening tests, this advanced option evaluates approximately 2,000 key genes with high clinical reliability. It assesses autosomal recessive and sex-linked disease variants that could potentially be passed on to children, even when parents appear healthy, thus supporting data-driven family planning decisions.
With the launch of this service, 3billion aims to expand its customer base beyond the traditional genetic specialist market to include major obstetrics and gynecology practices, in vitro fertilization (IVF) clinics, and family planning counseling organizations.
Prior to the service launch, the company conducted pilot tests in select regions of the Middle East and Africa, where high rates of consanguineous marriages necessitate careful genetic risk management. These tests confirmed both the diagnostic demand and market viability. Building on these insights, 3billion plans to extend the service to regions with high birth rates, such as parts of Asia and South America.
Keum Chang-won, Chief Executive Officer (CEO) of 3billion, explained that they’ve successfully expanded the AI genetic variant interpretation technology, honed through years of rare disease diagnostics, from individual to family-wide applications. The Family Insight Test is designed to address the genetic uncertainties faced by high-risk families and empower them to plan for a safer, more predictable future. For couples with a family history of genetic diseases, this test will serve as a crucial tool in their family planning process.