TAIPEI, TAIWAN, Oct. 31, 2024- Imagine if a simple genetic test at birth could reveal health risks that might affect your child in the future. That’s the groundbreaking goal of the BabySeq Project, a study launched by Harvard researchers to explore whether genetic testing can help identify health risks early in life. By sequencing the genomes of newborns, the BabySeq Project hopes to empower parents and doctors with information that could support better healthcare for children. Recently, this study uncovered new insights suggesting that genetic risks may be present at similar rates across diverse demographic groups, potentially making genetic testing a useful tool for everyone.
The BabySeq Project began in 2015 as a controlled trial led by researchers at Harvard Medical School. The aim was to compare the health of newborns who had undergone genetic testing with those who hadn’t. The first phase of the study, called BabySeq1, involved mostly families of European ancestry with higher socioeconomic backgrounds. Through this phase, researchers found that about 9% of infants who had their genomes sequenced carried a genetic variant that increased their risk for developing a childhood-onset disease.
However, recognizing that many genetic studies often lack representation from a broad range of backgrounds, the BabySeq team launched a second phase, BabySeq2, to see if results from the first phase would hold across a more inclusive population.
Genetic research has historically included predominantly White participants, resulting in data that doesn’t always represent people from a wide range of racial and ethnic backgrounds. This lack of representation can create what scientists call “bias in genetics,” leading to fewer accurate findings for underrepresented groups.
For example, when a genetic variant has only been observed in a limited group, like those of European ancestry, it’s harder to determine whether that variant would have the same effect in people of different backgrounds. This gap can lead to “Variants of Uncertain Significance” (VUS), which means scientists aren’t sure if a gene variant is harmful. Addressing this gap is essential, as it can help ensure that everyone benefits from advances in genetic testing.
In BabySeq2, researchers enrolled a much more diverse group of infants. Of the 554 newborns enrolled, 45% identified as Black or African American, 26% as Hispanic or Latino, and 9% as White or European American, with smaller percentages representing Asian, Native American, Middle Eastern, and other backgrounds.
In the BabySeq1 cohort, approximately 11.4% of participants had a risk for diseases caused by specific genetic mutations, known as Mendelian diseases. The BabySeq2 findings revealed similar numbers, with about 15% of participants carrying genetic variants that increased their risk for Mendelian diseases. Likewise, a comparable proportion of participants in BabySeq2 (85.8%) were carriers of recessive genetic disorders, a number not statistically different from the earlier study.
When researchers looked closer at specific racial and ethnic groups, they found that rates of genetic risk were also similar. For example, 19.2% of Black or African American participants carried a genetic risk for Mendelian disease, compared to 9.7% of Hispanic or Latino participants and 9.1% of White or European-American participants. Although there were slight differences, none were large enough to suggest meaningful variations in risk levels across groups.
In genetic testing, variants are generally classified based on how they affect genes. Some variants alter protein function and are typically classified as pathogenic (harmful) if they’ve been seen before in databases. However, these databases often lack data from participants from diverse backgrounds, meaning there can be bias in what is classified as a harmful variant.
The BabySeq team also studied "loss-of-function" variants—mutations that cause genes to stop working as they should, which can still be classified as likely pathogenic even if they haven’t been seen before. When looking at these different types of variants, the researchers found no significant differences in the average number of genetic risk variants across demographic groups in either phase of the study. This suggests that genetic risks may be more uniformly distributed across groups than previously thought.
The BabySeq Project’s findings could have significant implications for healthcare and genetic counseling. By showing that genetic risks for disease appear at similar rates across diverse groups, BabySeq is working toward breaking down historical biases in genetic research. These findings emphasize the importance of including people from all backgrounds in genetic studies to ensure that everyone can benefit from advancements in personalized medicine.
The ultimate goal of BabySeq is to make genetic testing an accessible tool for all families, not just a select few. When genetic risks are better understood and shared broadly, families and healthcare providers can make more informed decisions that could improve long-term health outcomes. By paving the way for inclusivity in genetic research, the BabySeq Project may be helping to shape a more equitable future in healthcare—one where every newborn can start life with a personalized approach to wellness.
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