One of the Largest and Most Diverse Studies on Sickle Cell Trait and Blood Clots Reveals Findings That Impact All Populations

Rhea-AI Summary

23andMe, in collaboration with the National Human Genome Research Institute and Johns Hopkins University, conducted one of the largest and most diverse studies on sickle cell trait (SCT) and its association with venous thromboembolism (VTE). The study, published in Blood Advances, analyzed data from 4.2 million research-consented participants, including 19,000 with SCT.

Key findings include:

• SCT is a modest risk factor for blood clots across diverse populations
• Individuals with SCT have a lower risk of VTE compared to carriers of factor V Leiden
• SCT is associated with pulmonary emboli (PE) but not deep vein thrombosis (DVT)
• The study suggests a unique mechanism of blood clotting in people with SCT

This research provides valuable information for clinicians counseling individuals with SCT and highlights the importance of inclusive genetic research.

Positive

• Large-scale study with 4.2 million participants, including 19,000 with sickle cell trait
• Collaboration with prestigious institutions (NHGRI and Johns Hopkins University)
• Findings applicable across diverse populations, expanding knowledge beyond previous studies
• Results published in a reputable journal (Blood Advances)
• Study provides valuable information for clinical care and counseling of individuals with sickle cell trait

Negative

• None.

Medical Research Analyst

This collaborative study on sickle cell trait (SCT) and venous thromboembolism (VTE) is a significant advancement in understanding genetic risk factors across diverse populations. The research, involving 4.2 million participants, including 19,000 with SCT, provides robust evidence that SCT is a modest risk factor for blood clots across all genetic backgrounds.

Key findings include:

• SCT carriers have a lower VTE risk compared to factor V Leiden (FVL) carriers
• SCT is associated with pulmonary emboli (PE) but not deep vein thrombosis (DVT)
• This pattern differs from FVL, suggesting a unique clotting mechanism in SCT

These results could impact clinical care, especially in surgical or hospitalization scenarios where VTE risk is elevated. The study's diverse cohort also challenges the misconception that SCT is to specific racial groups, potentially improving genetic counseling and risk assessment across all populations.

Hematology Expert

This groundbreaking study reshapes our understanding of sickle cell trait (SCT) and its implications for thrombotic risk. The finding that SCT increases pulmonary embolism (PE) risk but not deep vein thrombosis (DVT) is particularly intriguing, as it differs from the pattern seen in factor V Leiden (FVL).

This suggests a unique pathophysiology of clot formation in SCT, possibly related to the sickling process in the pulmonary vasculature. The lower overall VTE risk in SCT compared to FVL is reassuring, but still warrants attention in high-risk situations.

Clinically, this data supports tailored thromboprophylaxis strategies for SCT carriers, especially in scenarios with increased PE risk. It also underscores the importance of considering SCT in all patients, regardless of ancestry, potentially leading to more inclusive and effective VTE risk assessments in diverse populations.

Genetic Health Specialist

This study marks a significant leap in genetic health research, showcasing the power of large-scale, diverse genetic databases in uncovering nuanced health risks. The inclusion of 4.2 million participants from various genetic backgrounds addresses a critical gap in SCT research, which has historically focused primarily on Black populations.

The findings challenge the notion that SCT is a concern only for specific racial groups, emphasizing its relevance across all communities. This could lead to more equitable genetic screening practices and personalized risk assessments.

Moreover, the study's comparison of SCT with FVL provides a valuable context for clinicians, potentially influencing genetic counseling protocols and thrombosis risk management strategies. This research exemplifies how comprehensive genetic studies can simultaneously advance scientific understanding and promote health equity.

23andMe, National Human Genome Research Institute, and Johns Hopkins University conducted collaborative research that studied sickle cell trait in a diverse population

SUNNYVALE, Calif., Sept. 12, 2024 (GLOBE NEWSWIRE) -- 23andMe Holding Co. (Nasdaq: ME) (23andMe), a leading genetic health and biopharmaceutical company, in collaboration with lead researchers at National Human Genome Research Institute, part of the National Institutes of Health (NIH), and Johns Hopkins University, conducted one of the largest and most diverse studies on sickle cell trait (SCT). Many prior SCT research studies have only focused on Black/African American populations. This collaborative research leveraged 23andMe’s diverse cohort of research-consented participants. The researchers studied the association of sickle cell trait with venous thromboembolism (VTE) (blood clots) and compared this degree of risk to factor V Leiden (FVL). The results from the study were published today in the journal Blood Advances.

Sickle cell trait and sickle cell disease

Sickle cell disease is a global public health issue.

• Individuals with sickle cell disease (SCD) have two genes that cause the production of sickle hemoglobin, and these patients can have severe pain and other organ complications
• Individuals with sickle cell trait (SCT) carry only one gene that causes the production of sickle hemoglobin, and these individuals are generally healthy. However, SCT can be a risk factor for select health outcomes such as blood clots.

One hundred million people worldwide have sickle cell trait. In the United States, three million people have sickle cell trait, and it disproportionately affects the Black community. However, sickle cell trait and sickle cell disease aren’t just a Black issue. Individuals in all communities can have sickle cell trait.

This study found that sickle cell trait is a modest risk factor for blood clots across populations. “This study uniquely demonstrates that sickle cell trait's association with blood clots extends across diverse genetic backgrounds,” said Keng-Han Lin, Ph.D., a Senior Scientist at 23andMe and a co-author of the paper. “It highlights how comprehensive genetic research can reveal health risks relevant to all communities.”

Collaborative and diverse sickle cell trait study

Most prior sickle cell trait studies have been limited to the Black community because many assume SCT occurs only in a specific race or population. Combining those assumptions with systemic racism can lead to bias.

“The power of the 23andMe platform is that it enables research that's inclusive of communities historically underrepresented in genetics research at an unprecedented scale. This diversity can help uncover novel biology and can also dispel misconceptions,” said Anjali Shastri, Ph.D., a Principal Program Manager at 23andMe who leads research equity programs and advocacy partnerships for research and is a co-author of the study.

With this collaborative study, researchers at National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), Johns Hopkins University (JHU), and scientists at 23andMe sought to better understand the connection between sickle cell trait and blood clots. The study was one of the largest sickle cell trait studies to date, leveraging 4.2 million 23andMe research-consented participants, which included 19,000 with SCT. The researchers studied the associations with venous thromboembolism (VTE). To contextualize SCT and VTE, the researchers also studied the association of factor V Leiden and VTE.

The study also looked at different types of blood clots: deep vein thrombosis (DVT), which forms in a deep vein like in the legs, and pulmonary emboli (PE), which are caused by blood clots that travel to the lungs.

Sickle cell trait study results

Study results validated the association of sickle cell trait with blood clots. However, the study found that individuals with sickle cell trait are at a lower risk for VTE than carriers of factor V Leiden. The study also validated the association between having SCT and with developing pulmonary emboli (PE), and it similarly validated that sickle cell trait was not associated with developing deep vein thrombosis (DVT). This pattern of blood clots was the opposite of that found in FVL. In individuals with FVL, the risk of DVT was greater than the risk of PE.

“This study suggests a unique mechanism of blood clotting in people with sickle cell trait,” said Rakhi Naik, M.D., M.H.S., Clinical Director for the Division of Hematology at Johns Hopkins University, who co-led the study. “Knowing the risks of blood clots in people with sickle cell trait is important for situations such as surgeries or hospitalizations, which add to the risk of developing serious blood clots.”

In addition to suggesting novel biology for individuals with sickle cell trait in the development of PE, this study may inform clinical care. “This study provides valuable information to clinicians counseling individuals with sickle cell trait,” said Julie Granka, Ph.D., a Principal Scientist at 23andMe and a co-author of the paper. “Our study results are applicable across ancestries, and they show valuable comparisons to Factor V Leiden, where there is more established clinical guidance. Notably, the risk of VTE for individuals with SCT is lower than for those with Factor V Leiden.”

About 23andMe

23andMe is a genetics-led consumer healthcare and biopharmaceutical company empowering a healthier future. For more information, please visit www.23andMe.com.

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FAQ

What did the 23andMe (ME) study reveal about sickle cell trait and blood clots?

The study revealed that sickle cell trait (SCT) is a modest risk factor for blood clots across diverse populations. It found that individuals with SCT have a lower risk of venous thromboembolism (VTE) compared to carriers of factor V Leiden. The research also showed that SCT is associated with pulmonary emboli (PE) but not deep vein thrombosis (DVT).

How many participants were included in the 23andMe (ME) sickle cell trait study?

The study included data from 4.2 million 23andMe research-consented participants, of which 19,000 had sickle cell trait. This makes it one of the largest and most diverse studies on sickle cell trait to date.

What is the significance of the 23andMe (ME) sickle cell trait study published in September 2024?

The study is significant because it demonstrates that sickle cell trait's association with blood clots extends across diverse genetic backgrounds, not just in Black/African American populations. It provides valuable information for clinicians counseling individuals with sickle cell trait and highlights the importance of inclusive genetic research.

How does the risk of blood clots in sickle cell trait compare to factor V Leiden according to the 23andMe (ME) study?

The study found that individuals with sickle cell trait have a lower risk of venous thromboembolism (VTE) compared to carriers of factor V Leiden. Additionally, sickle cell trait was associated with a higher risk of pulmonary emboli (PE) but not deep vein thrombosis (DVT), which is the opposite pattern observed in factor V Leiden.