myGeneticScreen Knowledge Hub

Genetic testing involves a person's DNA, RNA, or chromosomes being analyzed in a laboratory to identify changes or variations in their genes. Genetic testing can provide important information about a person's genetic makeup. This information can reveal how likely they are to develop certain diseases. Genetic testing can also show if a person is likely to pass certain genetic conditions to their biological children.

The myGeneticScreen test can help identify three inherited conditions, all from an easy saliva sample collected from home.

This test looks for genetic changes associated with:

Hereditary breast and ovarian cancer syndrome (Increases the risk of breast, ovarian, and other cancers)

Lynch syndrome (Increases the risk of colon, endometrial, and other cancers)

Familial hypercholesterolemia (Impacts unhealthy cholesterol levels and may increase the risk of heart disease)

You can learn more about these three conditions in the FAQs below. Depending on your results, you'll learn if you have an increased risk of developing certain cancers and heart disease. With your lab result report, you and your provider can be more empowered to take action and make informed decisions about your healthcare.

Hereditary breast and ovarian cancer syndrome, familial hypercholesterolemia, and Lynch syndrome have been classified by the Centers for Disease Control and Prevention (CDC) as Tier 1 genetic conditions. This means that if a disease-related genetic change is shown in a sample, there is an increased chance of the person developing that disease [1].

Not all conditions are appropriate to screen in a population with an average risk. However, these CDC Tier 1 conditions have well-known links to disease. They also have effective interventions that can help prevent the disease or reduce its severity or risk [1].

Up to 90% of at-risk individuals are not identified before genetic testing. This is why testing is so important for you and your provider to better understand your personal risk and take action [2].

1. National Academy of Medicine. A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults. Online: nam.edu

2. Nature Medicine. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Online: nature.com

Genetic testing may reveal information that can help you and your healthcare provider make more informed decisions about your healthcare and lifestyle. The myGeneticScreen test is intended for use in healthy adults who do not have a personal or family history of cancer or cardiac disease. It is for people with average risk for these diseases, who are curious if they carry a genetic variant (change) associated with:

Hereditary breast and ovarian cancer syndrome (Increases the risk of breast, ovarian, and other cancers)

Lynch syndrome (Increases the risk of colon, endometrial, and other cancers)

Familial hypercholesterolemia (Impacts unhealthy cholesterol levels and increases the risk of heart disease)

When deciding whether to take a genetic test, it’s important to consider your personal medical history and family health history. You can consult with your healthcare provider to discuss whether genetic testing is right for you. People who are in good health may still have a genetic condition that can increase their risk of certain diseases, regardless of their family’s health history.

You should consider the effect that your results may have on the healthcare of you and your family members. Understanding your genetic risk is empowering, but it can also be emotional for you and your family members. This is why we offer genetic counseling before and after your test. Genetic counselors help patients understand complex genetic information while supporting them through their testing journey. Along with providing scientific information, genetic counselors also provide emotional support and resources. Depending on your result, your provider may recommend that you attend more regular screenings or take interventional action. It’s important that you share all results with your healthcare provider. Any changes to your healthcare or health screenings should be made under the guidance of your healthcare provider.

If you have ever received a stem cell, liver, or bone marrow transplant, we are unable to process your sample. These procedures could result in both you and your donor’s DNA being analyzed. This can make the results difficult to interpret or even inaccurate.

For patients undergoing chemotherapy, we ask that you wait at least 4 months until testing. This is because the chemotherapy medications in your body may impact the analysis of your sample, resulting in potentially inaccurate results.

For patients who have recently had a blood transfusion, we ask that you wait at least 6 weeks before testing. This is because patients who have had a blood transfusion will have donor DNA mixed in with their own for a while, so we ask that you wait at least 6 weeks for the donor DNA to be cleared.

The myGeneticScreen test is for people who do not have a significant personal or family history of these three conditions (“average risk”). People who have a significant personal or family history of one of these conditions (“high risk”) should work with their healthcare provider for appropriate testing. If you have a significant personal or family history of cancer or cardiovascular disease, then this may not be the right test for you. In high-risk individuals, this test may miss a disease-causing genetic variant. It is important that you consult with your healthcare provider about your individual risk, as there are more comprehensive genetic testing panels and diagnostic options that might be more appropriate for high-risk individuals. A pre-test counseling session with a member of the LetsGetChecked team can help identify if this test is appropriate for you.  The following list can be a sign that you may have one of these inherited conditions in your family. If any of these points apply to you, you should seek appropriate testing with your healthcare provider:

Hereditary breast and ovarian cancer syndrome

• For women, if you have had breast cancer at age 50 or younger. For men, if you have had breast cancer at any age

• If you have had ovarian, fallopian tube, or primary peritoneal cancer (currently or in the past)

• If you have had cancer in both breasts

• If you have had triple-negative breast cancer

• If you have had pancreatic cancer or metastatic, high-risk, or very-high-risk group prostate cancer

• If multiple blood relatives have had breast, ovarian, pancreatic, or prostate cancer

Lynch syndrome

• If you have had colorectal cancer (currently or in the past)

• If you have been diagnosed with endometrial cancer (especially before the age of 50)

• If several of your family members have been diagnosed with colorectal, endometrial, or any other cancers that are associated with Lynch syndrome

Familial hypercholesterolemia (FH)

• If you have several close family members who have had heart attacks earlier in life

• If you have had heart attacks earlier in life

Once your sample has been processed, your results will be released to your online secure password-protected LetsGetChecked account. Two main types of results may be returned: a positive result or a negative result. 

A positive result means that a genetic variant (or change) associated with an increased risk of developing a disease was identified. Knowing this information may help you and your healthcare provider make more informed choices about your healthcare. You may also wish to pursue genetic counseling to discuss your test results.

A negative result means that no genetic variants linked to an increased risk of developing disease were identified in any of the 11 analyzed genes. A negative result does not eliminate the risk of developing a disease. Your healthcare provider should make medical management recommendations based on your personal and family history.

If you receive a positive result, a member of the LetsGetChecked team will contact you through a phone call before your results are released. Your lab results will be released to your password-protected LetsGetChecked account. These results will be in the form of a lab report. You will be able to download this lab report directly from your dashboard. You can request a call from a member of our clinical team or schedule a genetic counseling session. Our genetic counselors can help you understand your results and next steps. If you receive a positive result, it is important that you schedule a genetic counseling session. Results are completely confidential, but you may want to let your family members know if you receive a positive result. If you receive a positive result, your family members can also test for these three hereditary conditions with LetsGetChecked using myGeneticScreen.  Even if you receive a negative result, it is possible to develop cancer or high cholesterol in your lifetime. This is because there are many different factors that can increase your risk, your genes are only one piece of the puzzle. So it’s very important that you keep up with your regular screenings as well as visits to your provider if you notice any changes in your health. 

No matter what your result is, it is important that you share all results with your healthcare provider. This will give them a better picture of your health and can help inform healthcare decisions.

Less than 2% of people will receive a positive result for one of these three inherited conditions [1]. However, up to 90% of at-risk people are not identified before genetic testing [2]. This is why testing is so important for you and your provider to better understand your personal risk and take action.

1. National Library of Medicine. Implementing genomic screening in diverse populations. Online: pubmed.ncbi.nlm.nih.gov

2. Nature Medicine. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Online: nature.com

Genetic variants (or changes) is a term used to describe the differences in the DNA between individuals. Each person has thousands of genetic variants in their DNA, which is why we’re all different. There are some variants that can increase our risk of developing a disease, and others that require medical attention because they pose a risk to our health. Variants that increase our probability of developing a disease are called pathogenic (or disease-causing) variants.

Is it bad to have a disease-causing genetic variant (change)?

Detecting disease-causing variants can be a beneficial step in a person’s healthcare journey, as it may inform conversations with their healthcare provider. If you receive a positive result from your myGeneticScreen test, this does not mean you have been diagnosed with cancer or cardiovascular disease, or that you will ever develop them. However, your risk is higher than average, so there may be actions you can explore with your provider to manage this risk. This information not only benefits the person who took the test, but can also empower their family members to have the right conversations with their providers. 

Depending on your results from the myGeneticScreen, you'll learn if you have an increased risk of developing certain cancers and heart disease, as this test will look for genetic variants associated with three inherited conditions that can increase this risk. These CDC Tier 1 conditions have well-known links to disease. They also have effective interventions that can help prevent the disease or reduce its severity or risk [1].

Once you have your lab report, you should share this with your provider to better understand your personal risk. Your provider will be able to take this information into account with your overall health and risk profile. They may suggest more regular screenings or other interventional procedures to manage your risk. However, any changes to your healthcare will be at the discretion of your healthcare provider.

You should also share your results with your family, as it is likely that some of your family members also carry the genetic variant(s). Your family members may then undergo genetic testing to understand their unique risk. 

1. National Academy of Medicine. A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults. Online: nam.edu

Hereditary Breast and Ovarian Cancer syndrome (HBOC) is an inherited condition that occurs when somebody is born with a disease-causing variant (or change) in the BRCA1 or BRCA2 genes. HBOC increases your risk of developing breast cancer in addition to other cancers in both men and women. It affects ~1 in 400 people [1]. If you are a woman with a genetic variant in the BRCA1 or BRCA2 genes, your risk of developing breast cancer by 70–80 years of age is 55%–72% with a BRCA1 variant, and 45%–69% with a BRCA2 variant. This is compared to about 13% of women in the general population who will develop breast cancer at some time during their lives [1]. If you are a man, you also have a higher lifetime risk of developing breast cancer, but to a lesser extent: 7–8% with a BRCA2 variant, and 1% with a BRCA1 variant. This is compared to about 0.1% of men in the general population who will develop breast cancer at some time during their lives [2]. Variants in BRCA genes also increase the risk of ovarian cancer, high-grade prostate cancer, and pancreatic cancer.

If a person is identified to have a disease-causing variant in the BRCA1 or BRCA2 genes, more frequent cancer screening or preventative measures may be recommended by their provider.

1. National Cancer Institute. BRCA Gene Mutations: Cancer Risk and Genetic Testing. Online: cancer.gov

2. BMC Cancer. Male BRCA mutation carriers: clinical characteristics and cancer spectrum. Online: bmccancer.biomedcentral.com

Lynch syndrome is an inherited cancer syndrome that increases a person's risk of developing certain cancers. Lynch syndrome occurs when there are certain changes in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes. These genes typically protect you from getting certain cancers, however, sometimes variations in these genes prevent them from working properly. People with Lynch syndrome are more likely to develop colon, endometrial and other cancers. The lifetime risk of developing each cancer and the typical age of onset can vary based on the gene in which the variant (change) is found. A person with Lynch syndrome may have more frequent cancer screening or take preventative measures if they are recommended by their provider. Lynch syndrome may also be referred to as hereditary nonpolyposis colorectal cancer syndrome. If you don’t have any Lynch syndrome variants detected, then your risk of developing colorectal cancer is likely to be similar to the general population (roughly 4%) [1]. A woman’s risk of developing endometrial cancer is roughly 3% [2]. However there are many other factors that can also impact your risk. Changes in these genes are just one factor that can increase the risk of cancer. Family history, age, diet, and lifestyle factors such as smoking and lack of exercise can also influence a person’s risk.

1. American Cancer Society: Key Statistics for Colorectal Cancer. Online: cancer.org

2. American Cancer Society: Endometrial Cancer Risk Factors. Online: cancer.org

A hereditary form of high cholesterol, known as familial hypercholesterolemia (FH), can increase your risk of developing heart disease at a younger age [1]. It affects ~1 in 250 people [2]. 

The genes LDLR, APOB, PCSK9, and LDLRAP1 regulate the cholesterol levels in your body. Variants (or changes) in these genes are associated with FH, which is characterized by raised LDL cholesterol levels. LDL cholesterol is thought of as “bad” cholesterol because it contributes to the creation and build-up of plaques, which can cause blood vessels to narrow and make them less flexible. If you are identified to have a mutation in one of these genes, it may be harder for your body to control and remove cholesterol from your blood*.  If left untreated, men will have a 50% risk of developing cardiovascular disease by the age of 50, and women will have a 30% risk of developing cardiovascular disease by the age of 60 [1]. Finding and treating familial hypercholesterolemia early can reduce coronary heart disease risk by 80% [1]. If you don’t have any familial hypercholesterolemia mutations, then your risk of developing cardiovascular diseases is likely to be similar to the general population. However, there are many other things that can impact your risk. These include conditions like high blood pressure or diabetes, your family history, diet, lifestyle, and weight. 1. CDC. Familial Hypercholesterolemia. Online: cdc.gov

2. Medline Plus. Familial hypercholesterolemia. Online: medlineplus.gov

Some genes on this panel are also associated with recessive conditions. A recessive condition means that a person has to have a variant (or change) on two copies of the gene to have the condition. For example, if both biological parents have a genetic variant (or change) related to a recessive condition, there is a 25% chance of a child having the condition.  

If a person has a certain variant (or change) in a BRCA1 or BRCA2 gene, that person has Hereditary Breast and Ovarian Cancer Syndrome. They are also a carrier for a condition called Fanconi Anemia (FA) that affects the bone marrow and other parts of the body. 

If a person inherits a variant (or change) associated with Lynch syndrome, that person is also a carrier for a condition called Constitutional Mismatch Repair Deficiency (CMMRD). This is a rare condition that increases the risk of cancer in children and young adults.

Your results report will indicate if you are a carrier for one of these genetic conditions.  

As with all genetic tests, there are technical limitations that may prevent the detection of certain genetic variants or may give an inaccurate result, due to, for example, poor DNA quality, technical errors in the laboratory, analytical or interpretive false positives, incorrect reporting of family relationships or clinical diagnosis information, or other types of limitations. You should discuss your results with your healthcare provider to determine if changes to your medical care are indicated.

Genetic counselors are board-certified providers who are specifically trained in medical genetics. They help individuals understand the implications of genetic test results, provide support, and assist in making informed decisions about actionable next steps following the identification of disease associated/causing variants. 

A genetic counseling session is a specialized consultation with a trained genetic counselor or medical geneticist to help individuals and families understand the genetic aspects of a medical condition, assess their risk, and make informed decisions about genetic testing, family planning, and healthcare management. Genetic counselors will engage patients in discussions of their personal medical and family history, evaluate individual risk based on testing results and known clinical information, and guide and empower patients to take actionable next steps with their care providers. Given that the genetic counselor will ask about personal and family history of cancer and cardiac disease, it may be helpful to gather this information prior to the session. LetsGetChecked offers both pre-test and post-test genetic counseling sessions. 

A pre-test genetic counseling session occurs before an individual undergoes genetic testing. During a pre-test genetic counseling session the genetic counselor will ask an individual about their personal and family history of cancer and cardiac conditions so it may be helpful to gather information prior to the session. The genetic counselor will discuss if the genetic test is appropriate based on an individual's personal and family history, review the possible results of the genetic test, help the patient make an informed decision about genetic testing, and answer any questions that the patient may have. Please set aside up to 30 minutes for the pre-test session. 

A post-test genetic counseling session occurs after an individual’s genetic testing results are available. During a post-test genetic counseling session the genetic counselor will review the results of the genetic test in the context of an individual's personal and family history. If a disease-causing variant is identified, the genetic counselor will discuss possible implications for the patient and will discuss testing for family members. A post-test genetic counseling session is strongly recommended for anyone identified to have a positive genetic testing result. Please set aside up to 60 minutes for the session.

Family testing, also known as cascade testing, is a follow-up genetic testing strategy for the immediate blood relatives of an individual who has been diagnosed with a genetic condition or identified as having a pathogenic variant. 

If you have one of these three inherited conditions, your risk is higher than average, but you may not necessarily develop cancer or heart disease in your lifetime. However, you may still pass this variant to your biological children, which can increase their risk regardless of whether you develop one of these diseases yourself. This is why it is important that biological family members are also tested following a positive result. Family testing can help identify at-risk relatives. This can enable your healthcare provider to create a personalized screening plan to aid in the early detection and intervention of disease, inform family planning, and help enable more effective prevention measures. 

At this time, you must be 18+ years of age to be eligible for a LetsGetChecked test. Guidelines by the American Academy of Pediatrics, National Society of Genetic Counselors, American College of Medical Genetics, and the American Society of Human Genetics generally do not recommend predictive genetic testing for adult-onset conditions, such as Hereditary Breast and Ovarian Cancer syndrome or Lynch syndrome under age 18. Genetic testing for Familial Hypercholesterolemia may be recommended for individuals under age 18, but cannot be coordinated through LetsGetChecked at this time.

Cascade testing for Hereditary breast and ovarian cancer syndrome, Lynch syndrome, and Familial Hypercholesterolemia is very important, as these are inherited conditions[2–4].

If you have a BRCA1, BRCA2, Lynch syndrome, or Familial hypercholesterolemia genetic variant:

Your mother, father, children, and siblings have a 1 in 2 (50%) chance of having the same genetic variant [1,2,3].

Your half-siblings, aunts, uncles, grandmothers, and grandfathers have a 1 in 4 (25%) chance of having the same genetic variant [1,2,3].

Your cousins and other more distantly related family members have as much as a 1 in 8 (12.5%) chance of having the same genetic variant [1,2,3].

If you have the rare form of Familial Hypercholesterolemia called homozygous FH, then your family members will have even higher chances of Familial Hypercholesterolemia or homozygous FH. This is because you have a genetic variant in both copies of the gene, instead of just one [1}. We recommend scheduling a genetic counseling appointment with the LetsGetChecked team to understand how these results will impact you and your family members.

1. CDC. Cascade Testing for Familial Hypercholesterolemia (FH) to Find Family Members with FH. Online: cdc.gov

2. CDC. Cascade Testing for Lynch Syndrome. Online: cdc.gov

3. CDC. Cascade Testing for Hereditary Breast and Ovarian Cancer. Online: cdc.gov