Home / Clinical Decision Support & Reference / 23andMe Personal Genome Service (PGS) Genetic Health Risk Test for Hereditary Thrombophilia

23andMe Personal Genome Service (PGS) Genetic Health Risk Test for Hereditary Thrombophilia

by 23andMe · Based in United States → — Helping people access, understand, and benefit from the human genome.

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$199

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Overview

The 23andMe Personal Genome Service (PGS) Genetic Health Risk Test for Hereditary Thrombophilia is a direct-to-consumer genetic test designed to report on an individual’s genetic predisposition to developing harmful blood clots. Specifically, it screens for the Factor V Leiden variant in the F5 gene and the Prothrombin G20210A variant in the F2 gene, which are the two most common variants linked to hereditary thrombophilia.

This test is intended for individuals 18 years and older and is most relevant for people of European descent, though these variants are also found in populations with European ancestry, such as African Americans and Hispanics or Latinos. It provides risk estimates for developing a harmful blood clot for the first time but does not diagnose hereditary thrombophilia or any other health conditions. Users are advised to consult with a healthcare professional to discuss their results and overall risk, as lifestyle, environment, and other factors also contribute to the risk of blood clots.

The test is part of 23andMe’s broader Health + Ancestry Service, which offers a range of genetic health risk, carrier status, and wellness reports. Customers provide a saliva sample, which is then analyzed using single nucleotide polymorphism (SNP) genotyping. Results are delivered through a secure online account and can be accessed via a mobile app.

Reviewed by Pouyan Golshani, MD — Interventional Radiologist

Key Features

Detection of Factor V Leiden variant (F5 gene)
Detection of Prothrombin G20210A variant (F2 gene)
Direct-to-consumer saliva sample collection
Personalized online genetic health risk reports
Access to ancestry reports and DNA relative finder
Educational resources for healthcare professionals
Optional participation in genetic research

Use Cases

Understanding genetic predisposition to harmful blood clots
Informing discussions with healthcare professionals about personal health risks
Assessing genetic risk factors for family planning
Proactive health management and lifestyle considerations
Contributing to scientific and medical research

What Physicians Need to Know

Evidence Base

The 23andMe Personal Genome Service (PGS) Genetic Health Risk Report for Hereditary Thrombophilia is FDA-authorized. It specifically reports on the Factor V Leiden variant in the F5 gene and the Prothrombin G20210A variant in the F2 gene. Testing for genetic variants associated with hereditary thrombophilia is recommended by the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) under certain circumstances. Risk estimates provided are based on clinical studies that identify an association between a genotype and a health condition. The scientific details reference literature such as the American College of Chest Physicians Evidence-Based Clinical Practice Guidelines for the prevention of venous thromboembolism.

Clinical Validation Studies

The FDA authorization for 23andMe's Genetic Health Risk (GHR) tests, including hereditary thrombophilia, was granted through the de novo premarket review pathway. The analytical testing of the 23andMe genotyping process met accuracy thresholds of 99% or higher for correctly identifying the variants. The reports are considered scientifically and clinically valid by FDA standards.

Differential Diagnosis Support

The test identifies genetic variants (Factor V Leiden and Prothrombin G20210A) associated with an increased risk of developing harmful blood clots. However, it explicitly states that it 'does not diagnose hereditary thrombophilia or any other health conditions' and that 'only a healthcare professional can do that.' The report provides risk estimates primarily for people of European descent and notes that it 'does not test for all possible variants linked to hereditary thrombophilia' or variants in other genes. It also highlights that lifestyle, environment, and other genetic factors not covered by the test influence the overall risk.

Guideline Update Frequency

23andMe states that reports 'may occasionally be updated based on new information,' with a 'Change Log' describing updates and revisions. The initial Hereditary Thrombophilia report was created on April 17, 2017.

Clinical Workflow Integration

As a direct-to-consumer test, individuals initiate the testing process. The reports are intended to inform consumers and facilitate discussions with healthcare professionals. The report consistently advises users to consult a healthcare professional regarding their results, family history, or any concerns. Genetic counseling is not included as part of the 23andMe screening service.

Physician Tip

When reviewing 23andMe Hereditary Thrombophilia results, remember this is a genetic risk assessment, not a diagnostic test. The report covers only two specific variants (Factor V Leiden and Prothrombin G20210A) and does not encompass all genetic or non-genetic factors contributing to thrombophilia risk. Risk estimates are most relevant for individuals of European descent. Always integrate these results with a comprehensive clinical evaluation, patient history, family history, and consider further clinical testing or genetic counseling as appropriate for definitive diagnosis and management. Do not rely on this test for drug interaction checking or comprehensive differential diagnosis support.

The 23andMe service is direct-to-consumer and does not offer direct integration with Electronic Health Record (EHR) systems. Physicians will typically receive these results if the patient chooses to share their personal report. Manual review and incorporation of the genetic information into the patient's medical record are necessary. There is no automated decision support or audit trail functionality for physicians within this platform.

At a glance

Pricing $199

Deployment Cloud Based (for Data Access And Reports), At Home Kit (for Sample Collection)

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Details

Category	Clinical Decision Support & Reference, Lab & Diagnostics
Pricing	$199 Ancestry Service: $99; Health + Ancestry Service: $199; 23andMe+ Premium (annual membership): $268 first year, then $69/year; 23andMe+ Total Health (annual membership with exome sequencing and blood testing): $499 first year, then $199/year
Deployment	Cloud-based (for data access and reports), At-home kit (for sample collection)
Compliance
BAA Available	No AI-estimated
HIPAA Compliant	No AI-estimated
FDA Status	1 AI-estimated The 23andMe Personal Genome Service (PGS) Genetic Health Risk Test for Hereditary Thrombophilia received De Novo authorization (DEN160026) from the FDA on April 6, 2017. This authorization allows 23andMe to market this direct-to-consumer test for reporting on the Factor V Leiden and Prothrombin G20210A variants associated with an increased risk of developing harmful blood clots.
Integrations
EHR	Not specified
Specialties	Hematology, Laboratory Medicine

What the Web Says

The 23andMe Personal Genome Service (PGS) Genetic Health Risk Test for Hereditary Thrombophilia screens for two common genetic variants (Factor V Leiden and Prothrombin G20210A) linked to an increased risk of developing harmful blood clots. This test is primarily relevant for individuals of European descent, as the variants are most common and best studied in this population. It's important to note that the test indicates a higher risk but does not provide a definitive diagnosis of hereditary thrombophilia or a person's overall risk of developing blood clots. Healthcare professionals generally recommend further consultation and confirmatory testing for any positive results.

Overall: Mixed

Strengths

Identifies two common genetic variants associated with hereditary thrombophilia (Factor V Leiden and Prothrombin G20210A).
Can provide individuals with information about their genetic predisposition to blood clots, which they might not otherwise know.
The test is FDA-authorized for these specific genetic health risk reports, indicating a level of accuracy and reliability for the tested variants.
Results can prompt discussions with healthcare professionals about potential risks and further screening.
The process is generally considered easy to use with a home-based saliva kit.
Offers detailed, yet easy-to-understand, reports.

Limitations

Only tests for two specific genetic variants, not all possible variants linked to hereditary thrombophilia or other genes that may increase risk.
Risk estimates are most relevant for people of European descent and may not be as well-known or applicable to other ethnicities.
Does not provide a diagnosis of hereditary thrombophilia or predict if a person will definitely develop blood clots.
Some healthcare professionals may be unfamiliar with 23andMe results and may recommend confirmatory blood tests.
Negative results do not rule out the presence of other genetic variants or non-genetic factors that could contribute to blood clot risk.
Concerns exist regarding data privacy and the potential for genetic information to be used by insurance companies, although GINA protects against discrimination in health insurance.

Based on reviews from: 23andMe for Healthcare Professionals, accessdata.fda.gov, Genomelink, Reddit, Trustpilot, YouTube, 23andMe United Kingdom, Blue Cross & Blue Shield of Mississippi, DNA tests, Genealogy Explained

Last updated: 2026-07-17

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Press & Coverage

PR Newswire

23andMe, Inc. Granted First FDA Authorization to Market Direct-to-Consumer Genetic Health Risk Reports

23andMe received the first FDA authorization to market direct-to-consumer genetic reports for ten conditions, including hereditary thrombophilia, enabling individuals to access personal genetic health risk information.

2017-04

23andMe Blog

Good News About Health Reports

This blog post announces 23andMe's FDA authorization for ten genetic health risk reports, including hereditary thrombophilia, highlighting the company's role as the only one authorized to provide such reports without a prescription.

2017-04

National Gaucher Foundation

FDA Approves 23andMe Genetic Health Risk Reports

The FDA authorized 23andMe to market genetic reports for various diseases, including hereditary thrombophilia and Gaucher disease, providing consumers with insights into their personal health risks.

2017-04

KQED

What a 23andMe Disease Risk Report Can Tell You and What It Can't

This article discusses the scope and limitations of 23andMe's genetic health risk reports, explaining that they indicate the presence of DNA variants associated with higher disease risk, such as those for hereditary thrombophilia.

2017-04

23andMe Blog

New Study on People's Response to Information from Direct-to-Consumer Genetic Testing

A 2020 study examined how over 2,000 individuals reacted to 23andMe's Hereditary Thrombophilia Genetic Health Risk report, finding that it helped asymptomatic individuals understand their risk for venous thromboembolism.

2020-10

23andMe Blog

A Son's 23andMe Results Helps Father's Medical Team

This story highlights how a son's 23andMe Hereditary Thrombophilia Genetic Health Risk Report helped his father's medical team identify the cause of his severe blood clots, leading to tailored treatment.

2022-07

Blood Advances (American Society of Hematology)

Ancestry-independent risk of venous thromboembolism in individuals with sickle cell trait vs factor V Leiden

This peer-reviewed article, leveraging 23andMe research data, evaluates the ancestry-independent association between sickle cell trait and venous thromboembolism, comparing it to the well-established inherited thrombophilia Factor V Leiden.

2024-11

Videos

Product demos, reviews, and walkthroughs for 23andMe Personal Genome Service (PGS) Genetic Health Risk Test for Hereditary Thrombophilia.

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Frequently Asked Questions

How should a physician interpret and utilize the results of the 23andMe PGS Hereditary Thrombophilia test in a clinical setting, especially given its direct-to-consumer (DTC) nature and potential AI-driven interpretations?

Physicians should consider 23andMe PGS results as screening information, not definitive diagnostic tests, and confirm any positive findings with clinical-grade, physician-ordered genetic testing. While 23andMe utilizes algorithms for variant interpretation, the direct clinical utility for diagnosis or treatment planning requires careful consideration due to the test's scope and validation for clinical decision-making.

What are the regulatory and compliance implications for physicians when patients present 23andMe PGS Hereditary Thrombophilia test results, particularly concerning FDA oversight and HIPAA?

The 23andMe PGS test for hereditary thrombophilia is FDA-authorized for reporting genetic risk information, but it is not a diagnostic test. Physicians must ensure any subsequent clinical actions or documentation comply with HIPAA regulations regarding patient data privacy and security, treating these results like any other patient-provided health information, noting that DTC companies like 23andMe are not generally subject to HIPAA.

What are the clinically validated alternatives to the 23andMe PGS Hereditary Thrombophilia test that physicians should consider for diagnostic purposes?

Clinically validated alternatives include targeted genetic testing panels ordered by a physician through CLIA-certified and CAP-accredited laboratories, which offer higher analytical and clinical validity for diagnostic purposes. These tests typically cover a broader range of relevant genes and variants and are interpreted by medical geneticists, often recommended by organizations like ACMG and ACOG under specific circumstances.

What is the typical cost of the 23andMe PGS Hereditary Thrombophilia test, and is it generally covered by health insurance when a patient presents the results to a physician?

The 23andMe PGS test is a direct-to-consumer product, and its cost is typically borne by the individual, usually not covered by health insurance. The Health + Ancestry Service, which includes this report, costs around $199. If a physician orders confirmatory clinical-grade testing, that subsequent testing may be covered depending on medical necessity and the patient's insurance plan.

What are the key limitations of the 23andMe PGS Hereditary Thrombophilia test that physicians need to be aware of when counseling patients?

Key limitations include its focus on only two common genetic variants (Factor V Leiden and Prothrombin G20210A), meaning it does not detect all possible hereditary thrombophilia mutations. It provides risk information, not a diagnosis, and environmental or other genetic factors are not fully accounted for, potentially leading to false negatives or positives in a clinical context.

What ethical considerations and responsibilities does a physician have when a patient presents unsolicited 23andMe PGS Hereditary Thrombophilia results, especially regarding potential patient anxiety or misinterpretation?

Physicians have a responsibility to counsel patients accurately, clarifying that the 23andMe test is for risk assessment, not diagnosis, and to manage potential anxiety from misinterpreted results. They should guide patients on appropriate next steps, which may include confirmatory clinical testing or referral to a genetic counselor, while avoiding unnecessary medical interventions based solely on DTC results.

How does 23andMe handle patient genetic data, particularly concerning its use in research or AI model development, and what privacy concerns should physicians discuss with patients?

23andMe collects and stores genetic data, which can be used for research and AI model development, often with user consent. Physicians should advise patients to review 23andMe's privacy policy carefully, emphasizing that while anonymized data is often used, the implications of sharing genetic information for research purposes should be understood before consent is given, especially as 23andMe is not bound by HIPAA.

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