This week we’re wrapping up Black History Month by talking about genetics and health. Black Americans have the second lowest life expectancy of all racial and ethnic groups in the United States. Social determinants of health—like education, economic stability, living conditions, social and community support, and access to quality and culturally sensitive healthcare—play a huge role in health disparities. But genetic insights are one way to help empower individuals and communities to take action toward a healthier future. We’ll start with a spotlight on genetic testing gaps in cancer care, and then we’ll give an overview of other 23andMe health reports on conditions that can provide especially important insights for Black and African American individuals.
Genetic Testing Gaps and Cancer Disparities
Cancer is one example of a health condition where Black and African American individuals face uphill odds. In the U.S., breast cancer mortality is 38% higher among Black women compared to white women; Black women are often diagnosed with breast cancer at a later stage, when it can be harder to treat. Prostate cancer mortality is 2X higher among Black men compared to other men. And colorectal cancer mortality is up to 40% higher for Black Americans compared to white Americans.
Although social determinants of health are the cause of most of these disparities, genetics can provide key insights into one’s personal risk. Up to ten percent of all cancers are due to inherited genetic variants like those in the BRCA1 and BRCA2 genes, these variants significantly impact cancer risk. About 1 out of every 200 people has a BRCA1/2 variant, and there are certain BRCA1/2 variants that tend to be more common in people with African ancestry. But around 80% of people with impactful genetic variants in BRCA1/2 genes don’t know their BRCA status. Around half of people with variants in BRCA1/2 genes don’t meet national guidelines for clinical genetic testing, and even among people who do meet guidelines, many aren’t being tested.
Layered on top of that, Black and African American individuals in the U.S. are even less likely to have genetic testing for cancer risk compared to white Americans. Black and African American individuals are less likely to undergo genetic testing based on family history of cancer, leading to missed opportunities for cancer prevention. Even among cancer patients, Black and African American individuals are less likely to receive genetic testing compared to white individuals. There are many contributing factors to these disparities in genetic testing, including clinician bias, lack of awareness among clinicians and patients, and access to health insurance and care.
Not Just Women
BRCA1/2 variants impact men, too. Men with a BRCA1/2 variant have an increased risk for prostate cancer and certain other cancers, including breast cancer. More than 1 in 800 men will develop breast cancer during their lifetime, and for men with a variant in the BRCA1/2 genes that number can go up to 1 in 13. Men are often diagnosed at later stages, due in large part to lack of awareness and screening. And just like Black women, Black men have higher breast cancer mortality rates than white men.
23andMe offers a BRCA1/BRCA2 (Selected Variants)* report that includes 44 genetic variants, accounting for about 30–40% of cancer-related BRCA1 and BRCA2 variants in African Americans. We also offer an additional Breast Cancer PRS Report* and Prostate Cancer PRS Report*, along with several other cancer reports, to 23andMe+ Premium™ members that add up the influence of thousands of common variants that each have a smaller effect on the likelihood of developing cancer. For those who want to dive even deeper, 23andMe+ Total Health™ members receive exome-based? advanced genetic testing for high-impact variants in 33 genes related to hereditary cancers.
Beyond Cancer
23andMe has many other reports* on conditions that, while they affect many communities, disproportionately impact Black and African American individuals and people of African descent.
Blood conditions:
- Sickle Cell Anemia is a genetic disorder characterized by anemia, episodes of pain, and frequent infections. A person must have two copies of a specific variant in the HBB gene (known as HbS) in order to have the condition.
About 1 in 13 African Americans are carriers of sickle cell anemia (which is also called having sickle cell trait). - Beta Thalassemia and Related Hemoglobinopathies are genetic disorders characterized by anemia and fatigue as well as bone deformities and organ problems. A person must have two variants in the HBB gene in order to have the condition.
At least 1 in 50 African Americans are carriers of beta thalassemia or a related hemoglobinopathy. The HbC variant in HBB is most commonly found in African Americans. - G6PD Deficiency is a common genetic condition in which red blood cells are destroyed upon exposure to certain environmental triggers, which can lead to episodes of anemia, fatigue, and jaundice.
Around 15% of African American 23andMe customers carry the V68M variant, one of the two variants tested. The V68M variant included in this test is expected to be responsible for up to 90% of cases of G6PD deficiency in people of African descent.
Cardiovascular conditions:
- Hereditary Amyloidosis (TTR-related) is a genetic condition characterized by the buildup of a protein called transthyretin (TTR) in the body’s tissues and organs. This protein buildup, called amyloidosis, can damage the nerves, the heart, and other parts of the body.
About 1 in 28 African Americans have a particular TTR variant called V122I, which increases the risk for heart damage and other symptoms of the condition. - Coronary Artery Disease (available with 23andMe+) is a type of heart disease that is typically caused by the buildup of plaque inside of the coronary arteries, which are the major blood vessels that supply the heart with oxygen-rich blood.
In the U.S., Black and African Americans have a higher risk of coronary artery disease than white Americans, and are more likely to die from heart disease. They also tend to develop heart disease at a younger age. - High Blood Pressure (available with 23andMe+), also called hypertension, is when the blood puts too much pressure on the walls of blood vessels, which can lead to heart disease, stroke, and other health problems.
Black and African American individuals are more likely to have high blood pressure than individuals of other ancestries.
Metabolic conditions:
- Type 2 Diabetes is a condition where sugar builds up in the blood and can lead to complications like heart disease and stroke. Excess weight and physical inactivity are important factors, but genetics also play a role.
Across the general U.S. population, around 40% of people are expected to develop type 2 diabetes in their lifetime, but people of Black or African American descent are at an increased risk.
- Chronic Kidney Disease (APOL1-related) is a condition in which the kidneys stop working properly over time, which can lead to bone damage, heart disease, and stroke. African Americans are about three times as likely to develop end-stage kidney disease (also known as kidney failure) compared to white Americans.
About 13% of African Americans have two APOL1 risk variants, which puts them at an increased risk for chronic kidney disease and end-stage kidney disease.
Reproductive conditions:
- Gestational Diabetes (available with 23andMe+) is a form of diabetes that starts during pregnancy.
Black and African American women are at least 1.5 times more likely to progress from gestational diabetes to type 2 diabetes. - Uterine Fibroids (available with 23andMe+) are a relatively common type of non-cancerous growth in the uterus. Not all fibroids cause symptoms, but some can cause heavy menstrual bleeding, pelvic pressure, or pain.
Uterine fibroids are more common and tend to develop earlier and be more severe in Black and African American people. - Preeclampsia (available with 23andMe+) is a condition that develops during pregnancy and is characterized by persistent high blood pressure and in some cases, injury to organs like the liver and kidneys. Preeclampsia typically goes away within a few weeks after delivery, but it requires careful management during pregnancy, delivery, and postpartum.
It’s estimated that preeclampsia develops in about 4% of pregnancies in the United States, but being of African or African American descent can increase a person’s chances of developing the condition and the risk of severe complications.
Brain conditions:
- Alzheimer’s disease is characterized by memory loss, cognitive decline, and personality changes. Late-onset Alzheimer’s disease is the most common form of Alzheimer’s disease, developing after age 65.
About 1 in 10 Americans age 65 and older is affected by Alzheimer’s disease. African Americans and Hispanics develop late-onset Alzheimer’s disease at higher rates than people of European and Asian descent.
Other conditions:
- Lupus (available with 23andMe+) is a group of autoimmune conditions that can occur in several forms, ranging from a small rash to severe disease that can affect multiple organs in the body. Symptoms typically come and go throughout life in flares, but if left untreated, lupus can have serious health consequences.
In the U.S., lupus is more common, tends to occur at a younger age, and is more severe in Black and African American individuals. - Asthma (available with 23andMe+) is a chronic lung condition characterized by shortness of breath, wheezing, and coughing. Symptoms of asthma may come and go, and certain triggers can cause them to worsen or flare up suddenly in episodes called asthma attacks.
African Americans, Puerto Ricans, and Indigenous Americans are more likely to experience asthma. - Glaucoma (available with 23andMe+) is a group of eye conditions that occurs when the nerve in the back of the eye (called the optic nerve) is damaged, most commonly due to high eye pressure. Optic nerve damage can cause gradual vision loss that may start as blind spots or loss of side (peripheral) vision and worsen over time.
In the U.S., Black and African American individuals are about five times more likely to develop glaucoma, six times more likely to go blind from glaucoma, and glaucoma occurs about 10 years earlier than in individuals of other ancestries.
There are a couple important limitations to keep in mind about 23andMe reports.
First, our reports don’t include all possible genetic variants associated with each health condition. In some cases, we may be missing variants that are more common in certain populations, often due to limitations of our genotyping technology. As a result, particular reports may be more or less relevant for you based on your genetic ancestry.
Second, for reports powered by 23andMe research, we don’t always have enough data to create a genetic prediction that meets our scientific standards for people of certain genetic ancestries. In those cases—including our Colorectal Cancer PRS Report*—genetic results may not be available for some customers.
We want to be transparent about these limitations, and we’re always working hard to improve. For example, in collaboration with the Colorectal Cancer Alliance, we launched a study called Genetic Insights into Colorectal Cancer in the Black Community, which aims to improve the performance of genetic report models that could help alert those with a higher likelihood of developing this important condition. As new discoveries are made—both within 23andMe and by scientists around the world—we hope to continue expanding our offerings to better serve all communities.
Read about why Jordan and Maurice participate in research
Access Your Genetic Insights
If you are a 23andMe Health+Ancestry, a 23andMe+ Premium, or a 23andMe+ Total Health member you already have access to your results for these conditions and many more. Many customers have access to this important information, but have not viewed or realized the potential impact of their genetic results. If you’re not yet a member, learn more about the services offered by 23andMe.
*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. Warnings & Limitations: The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person’s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. The variants included in this report do not represent the majority of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding each genetic health risk and carrier status report, visit 23andme.com/test-info/
?Exome Sequencing and blood testing services are available to eligible customers upon completion of the intake questionnaire that must be reviewed, approved and ordered by a third-party clinician. Exome Sequencing is analyzed by a CLIA- and CAP-accredited laboratory. Blood testing is completed by Quest Diagnostics. All telehealth services are provided in accordance with the Telehealth Terms and Consent to Telehealth.