Frequently Asked Questions

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Our genes are made up of deoxyribonucleic acid (DNA) and are a part of what we inherit from our parents. Genes are vital for discovering our risk(s) for developing a disease(s) and in determining our ethnic origin. Things like blood, spit, and urine are a part of our DNA.

We have anywhere from 20,000 to 25,000 genes. But of these, 81 genes are known to be actionable, meaning that one should take action to determine if the genes you carry (inherited from birth) are life-threatening, according to the American College of Medical Genetics and Genomics (also called ACMG). The ACMG list of genes is ever-changing as scientists find more genes associated with disease and disorders. To avoid onset or severe clinical outcomes, you should get a genetic test to find out if you are at risk and develop a mitigation plan for your health. 

Yes, several.  This is because scientists like to keep track of genes by assigning them to different disease categories. For example, the gene named TCF7L2 (which means Transcription Factor 7-Like 2) is strongly associated with Type 2 Diabetes risk, especially among Blacks.

A genetic diagnostic test provides you with information about your risk for developing a chronic inherited life-threatening disease like cancer, even when symptoms are not apparent. Genetic diagnostic tests vary because there are different kinds. You can take a genetic diagnostic test at home or with a healthcare provider, for example, by using your blood, spit, or urine for analysis. Your results can be given to you in as early as a few weeks.

More often than not, genetic diagnostic tests are used in people who have signs and symptoms of a disease, disorder, or other health condition to confirm or deny a suspected inherited genetic condition(s). In such cases, genetic diagnostic tests help inform you of your chance for developing a genetic condition or passing it ti your child (or children) and these types of tests can be performed before the birth of a child (or at any time during your lifetime). Keep in mind that genetic diagnostic tests are not available for all genes or all genetic conditions; however, as human genetic research evolves, new scientific discoveries are unveiled to help our understanding of other unknown genetic conditions. Results from your genetic diagnostic test can be used to make more informed decisions about your health and can guide your choices about healthcare and managing diseases and disorders.

On the other hand, genetic screenings are a type of test generally used in people who do not necessarily have signs or symptoms of a disease or disorder. Genetic screenings estimate whether your risk of having a certain health condition (a disease or a disorder) is increased or decreased when compared to the risk in other people similar to your ancestral and/or familial population. A positive result in screening means that your risk of developing the condition is higher than average while a negative screening result means that your risk is lower than average. However, bear in mind that having a positive screening result does not mean you have a health condition since screenings are only estimates. It is important to note that genetic screenings do not provide conclusive answers however they can certainly guide your next steps in healthcare, such as whether a genetic diagnostic test is needed.  

• Diagnostic testing to determine if you have a suspected disease or disorder like breast cancer, ovarian cancer, Type 2 Diabetes, or Huntington's disease.
• Pre-symptomatic or predictive testing to determine if you have family history of a genetic disease or disorder and want to get a test before you have any symptoms to tell you if you're at risk for developing a condition. 
• Carrier testing to determine if you belong to a genetic disease risk ethnic group, like being Black, known to be high-risk for developing certain diseases or disorders, like Type 2 Diabetes or sickle cell anemia, or if you have a family history of a genetic disease or disorder. This type of test can detect genes associated with a variation of diseases as well as tell you if you and your partner are carriers for the same conditions.
• Pharmacogenomic testing to determine which of your genes affect the way you metabolize medicine. This means that if you have a particular health condition or disease, this type of genetic test can help you understand what medication and dosage is most effective and beneficial for you.
• Prenatal testing to detect, in pregnant individuals, some types of abnormalities in your unborn baby's genes, like down syndrome.
• Pediatric genetic testing or newborn screening to determine if your newborn is at risk for developing a certain genetic disease or abnormality that causes a specific disease condition, like congenital hypothyroidism.
• Preimplantation testing if you want to understand genetic abnormalities and you are attempting to conceive a child. A result from this type of genetic test is that your embryos that do not have abnormalities can be implanted into your uterus with the hope of achieving a healthy pregnancy.

There are a wide range of benefits to getting a genetic test or undergoing genetic screening. Both options can provide you with information about your carrier risk status for several conditions you may have inherited from your parents. This is especially important to know if you are a childbearing woman before becoming pregnant because this gives you a number of reproductive options. These options include preimplantation genetic diagnosis, using donor eggs or sperm, adoption, and planning for a child with an inherited condition. 

Some people are carriers of genes that cause a health condition, disorder, or disease. This is because some of us may inherit (from our parents) a specific disease-associated gene in our DNA. Such as a breast or ovarian cancer gene, also known by their genetic names: BRCA1 and BRCA2. For example, if a person (man or woman) takes a genetic test, their genes are analyzed in a lab to check if there are DNA changes that show probability that the person carries the BRCA1 or BRCA2 gene. The results from a genetic test can be positive, negative, or inconclusive. Scientifically, this means results that are pathogenic or likely pathogenic, not pathogenic, or of unknown significance. Getting back to answering the question: A genetic test explains carrier status of a disease gene (meaning the likelihood of pathogenesis) and can also help explain what the results mean for you and possibly other family members. Genetic counseling with a board-certified genetic provider can help an individual with making an informed decision about their health. This could include various options. But (and this is a big but), genetic tests can mitigate risks by providing valuable health information about how to make decisions about breast cancer and ovarian cancer prevention which may or may not require the need for genetic counseling. One other thing, because not everyone will be diagnosed with carrying BRCA1 or BRCA2 genes, since 5-10% of people get it passed from their parents, genetic testing is highly important to understand you and your family’s risk. Especially during routine genetic wellness screenings. 

Genetic counseling involves the engagement between a patient and a licensed genetic counselor that happens before or after a genetic test is done to provide information, support, and interpretation of how an individual may be affected by or at risk for developing or carrying a genetic disease, disorder, or health condition based on results from genetic testing (or based on an assessment from genetic screening). While the odds of receiving a positive result (from an  genetic test) indicating there is a risk is generally less than 7%, genetic counseling is important as a routine part of wellness screenings and patient engagement before and after getting a genetic test.  A genetic counselor can interpret findings from a genetic test, also what we call clinical confirmatory interpretation. 

Genetic counseling takes place in various settings and is generally done via a telehealth appointment, in-person at a healthcare facility or doctor's office, or over the phone. Individuals (namely patients, including their family members) are referred to genetic counselors by a doctor to discuss family history and genetic risk(s) of a disease, disorder, or health condition. The referral from a doctor occurs before or after having genetic testing done. 

Consider that a genetic counselor is an important piece to your healthcare team (who may include your primary care doctor, obstetrician, hematologist, oncologist or medical geneticist).

Human genetic research examines why we are at risk for developing a disorder or inherited life-threatening disease(s), including who is at most risk for the disorder or disease based on genes, genetic variation, and ancestry, and what we can do to mitigate risks. This is done through methods called whole genome sequencing, whole exome sequencing, or genotyping. Genetic testing, from these methods, can improve our chances of fighting or managing a disorder or disease majorly.

During your routine genetic wellness screening with your provider (who is your doctor), you may be screened for high blood pressure, for example. If so, your doctor will ask you to take a blood pressure test and collect a blood sample. Your doctor then sends your bloodwork to a lab for genetic analysis to determine health risks underlying in your DNA. You are contacted at a point by your doctor, who transitions your care to a genetic counselor to interpret your lab results for the purpose of determining if you’re at high risk for developing  heart disease (since it was determined that you have high blood pressure). If you are, your doctor may prescribe a medicine that treats high cholesterol to control your blood pressure to reduce your risk for heart disease. This medicine works specifically for you based on your genes from which genetic tests can determine (this is known as pharmacogenomics). 

You can do one or several things immediately. First, relax and take a deep breath. You are not going to die anytime soon just because of your genetic makeup. Next, get a genetic test to determine your disease susceptibility (also known as your disease risk). Visit our national online Genetic Health Directory today (from our homepage) to get started on your path to precision health. 

Navigate to our national online Genetic Health Directory to view a listing of services offered and to connect to a network of cultural-conscious genetic health providers and genetic counselors of your preference, including access to genetic screening, diagnostic testing, genetic counseling services, and more. You may contact us from our homepage and reach out with any questions.