Introducing Family Insight: A Family-Based Genomic Solution for Reproductive Challenges

1. The Unanswered Questions in High-Risk Reproductive Cases

Recurrent pregnancy loss, stillbirth, early infant loss, and other unexplained reproductive outcomes remain some of the most challenging situations in reproductive medicine.

Even with advances in genetic testing, many families never receive a clear explanation for why a pregnancy failed or why a child was lost. Results often come back normal, inconclusive, or non-diagnostic, leaving families without answers and clinicians with difficult decisions ahead.

For families, this uncertainty is emotionally overwhelming.
For clinicians, it raises a critical question:

How do you guide future reproductive decisions when no clear genetic answer exists?

2. Why Standard Genetic Testing Often Falls Short

Conventional genetic evaluations are essential — but they were not designed to address every high-risk reproductive scenario.

Several well-known limitations leave gaps in diagnosis:

• Fetal or affected child DNA is often unavailable due to early pregnancy loss, degraded or contaminated tissue, or lack of sample preservation, limiting the ability to perform direct genetic testing.
• Cytogenetic testing (karyotype, CMA) primarily identifies large chromosomal abnormalities, while many causes of pregnancy loss arise from single-gene or sequence-level variants beyond their resolution.
• Carrier screening is restricted to predefined gene sets and may miss rare, family-specific, or unexpected inherited risks relevant to a family’s reproductive history.
• Preimplantation Genetic Testing for Monogenic disorders (PGT-M) requires a clearly defined genetic target. When the underlying genetic cause is unknown, PGT-M cannot be effectively applied, limiting its usefulness in supporting successful IVF outcomes.

Together, these limitations mean that a subset of high-risk families remains without actionable genetic insight, even after standard testing pathways are exhausted.

3. Why Genomic Sequencing Matters In Recurrent Pregnancy Loss

A large systematic review of WES studies (2013–2025) covering 24 studies, 585 families, and ~5,000 pregnancy losses found an overall diagnostic yield of 34.9%, meaning about one-third of cases received a genetic explanation¹.

Across cohorts, recurrent pregnancy loss showed diverse inheritance mechanisms:

• Autosomal recessive: ~42% (most common)
• De novo variants: ~31%
• Autosomal dominant: ~12%
• X-linked: ~5%
• Polygenic: ~10%

These findings demonstrate that genetic causes of reproductive loss are not limited to a single mutation type but span multiple inheritance patterns and biological pathways.

4. Introducing Family Insight Test
A Family-Based Genomic Approach for High-Risk Reproductive Cases

To help clinicians navigate this complexity, 3billion Family Insight Test introduces a family-based genomic approach using next-generation sequencing (NGS).

Rather than relying on fetal or affected child samples, Family Insight Test use Whole-Exome Sequencing (WES) or Whole-Genome Sequencing (WGS) to analyze parental or individual genomes and detect inherited variants linked to reproductive risk. This single-gene–level resolution allows clinicians to gain more precise genetic insight, improving the chances of a clear and clinically actionable interpretation.

5. Who is Family Insight Test for?

Family Insight is designed for high-risk reproductive and family scenarios, including:

• Reproductive challenges
  Couples with unexplained recurrent miscarriages, fetal death, or early infant loss.
• Genetic legacy concerns
  Individuals or couples with a known or suspected family history of inherited conditions who wish to assess their own risk.
• Alternative diagnostic pathways
  Families where direct testing of the affected individual is not possible or prior testing was inconclusive.
• Consanguinity
  Individuals from consanguineous families where inherited genetic risk may be elevated.

This approach is not intended for routine population screening, but for situations where clinical suspicion remains high and standard testing has failed to provide answers.

6. Why is this test needed?

Family Insight is designed to help clinicians:

• Identify hidden genetic causes behind past reproductive failures
• Guide future reproductive and family-planning decisions with genomic evidence
• Reduce diagnostic uncertainty in prolonged diagnostic odysseys

Optional Carriership Findings (Add-on)
As an optional add-on, Family Insight can also include carriership findings to proactively identify inherited risks beyond the immediate diagnostic question. To maintain diagnostic integrity, these findings are offered exclusively as part of the Family Insight Test.

7. A Clearer Path Forward

When standard genetic testing does not provide answers, a family-based genomic strategy can offer a new path toward clinical clarity.

Family Insight expands the diagnostic lens — helping bridge the gap between unresolved clinical suspicion and actionable genetic understanding.

Download the Family Insight brochure to explore clinical use cases, reporting strategy, and workflow integration.
Click here to request pricing and place your order.

Reference: 

1.Systematic review of WES in recurrent pregnancy loss (2013–2025). Available at: 

https://www.bibliomed.org/mnsfulltext/10/10-1767015151.pdf?1770736548