How are genetic tests used?


Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.




Should I get Tested?


Genetic testing can be both a personal decision and medical decision. Getting tested may be beneficial whether the test identifies a change in your genes ( mutation) or not. For some people, test results serve as a relief, eliminating some of the uncertainty surrounding their health. These results may also help doctors make recommendations for treatment or monitoring and give you more information for making decisions about your health and their family's health, allowing you to take steps to lower yours chance of developing a disease. Genetic testing can reduce your feelings of uncertainty, and this information can also help you and your doctor to make informed decisions about your health now, and into the future.




What can I learn from my genetics?


There are many different types of genetic tests that you can receive. Based upon the genetic test selected, genetic tests can help to:

  • Diagnose a disease
  • Identify gene changes that are responsible for an already diagnosed disease
  • Guide your physician in deciding on the best medicine or treatment to use for certain individuals
  • Identify gene changes that may guide you to better health through targeted diet and exercise
  • Identify gene changes that may increase the risk to develop a disease
  • Identify gene changes that could be passed on to children
  • Screen newborn babies for certain treatable conditions




What if I don’t understand my test results?


Because genetic test results can be hard to understand, we have specialists that can help explain what results might mean to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family members, sometimes a genetic test result may have implications for blood relatives of the person who had testing. If you would like to speak to one of our licensed genetic counselors, please “CLICK HERE” and you will be contacted shortly to set up an appointment.




What are the different types of genetic tests available?


  • Pharmacogenomics​

Pharmacogenomic testing gives information about how certain medicines are processed by an individual's body. This type of testing can help your healthcare provider choose the medicines that work best with your genetic makeup. Pharmacogenetics is the study of inherited genetic differences in drug metabolic pathways (and other pharmacological principles, like enzymes, messengers and receptors) which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects. The term pharmacogenetics is often used interchangeably with the term pharmacogenomics which also investigates the role of acquired and inherited genetic differences in relation to drug response and drug behaviour through a systematic examination of genes, gene products, and inter- and intra-individual variation in gene expression and function.

  • Hereditary Cancer​

Hereditary genetic testing helps estimate your chance of developing cancer in your lifetime. It does this by searching for specific changes in your genes, chromosomes, or proteins. These changes are called mutations. ​

Genetic testing may help:

  • Predict your risk of a particular disease
  • Find if you have genes that may pass increased cancer risk to your children
  • Provide information to guide your health care

No genetic test can say if you will develop cancer for sure. But it can tell you if you have a higher risk than most people.

  • ACMG 59​​

This report offers insights on pathogenic/likely pathogenic variants found within the set of 59 core health genes as recommended by the American College of Medical Genetics and Genomics (ACMG). The ACMG 59 test can reveal three types of conditions: cancer predispositions, cardiovascular predispositions, and metabolic conditions. While most of these conditions are inherited, In all three cases, knowing about these conditions ahead of time can give you the power to make informed decisions and potentially avoid health complications.

  • Exercise and Diet​

​ Studies show that individuals who used a personalized fitness plan using their genetic information lost 33% more weight than those who didn't. This genetic test offers you a personalized exercise and diet plan report based on your genetic makeup. The recommendations are based on your own genes, and backed by the most current, evidence-based scientific research.

  • Skin Match​​

How youthful your skin appears is based on a combination of your genetics (about 60%) and environmental factors (about 40%). However, improper care and negligence often accelerate skin aging, leading to wrinkles, dryness, and pigmentation. Our targeted approach can identify your skin’s natural strengths and weaknesses to develop a regimen tailored specifically for you. This curated report takes the guesswork out of your skincare, enables you to enhance the vitality of your skin, and accentuate your natural radiance.

  • Prenatal Screening

Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.

  • Newborn Screening

Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.

  • Research Genetics

Research genetic testing is used to learn more about the contributions of genes to health and to disease. Sometimes the results may not be directly helpful to participants, but they may benefit others by helping researchers expand their understanding of the human body, health, and disease.




How do I collect and send in my sample?


The following diagram explains how to perform the cheek swab, and how to ship it back to our lab. Should you have any questions, please contact your providers office for more instructions.




What do the results of genetic testing mean?


Genetic testing can give several possible results: positive, negative, true negative, uninformative negative, variant of uncertain significance, or benign (harmless) variant. Positive result. A positive test result means that the laboratory found a genetic variant that is associated with an inherited cancer susceptibility syndrome. A positive result may: * For a person who has cancer, confirm that the cancer was likely due to an inherited genetic variant and help guide treatment choices. * Indicate an increased risk of developing certain cancer(s) in the future and guide future management to lower that risk * Provide important information that can help other family members make decisions about their own health care, such as whether to have genetic testing to see if they have also inherited the variant. Also, people who have a positive test result that indicates that they have an increased risk of developing cancer in the future may be able to take steps to lower their risk of developing cancer or to find cancer earlier, including: * Being checked at a younger age or more often for signs of cancer * Reducing their cancer risk by taking medications or having surgery to remove “at-risk” tissue. (These approaches to risk reduction are options for only a few inherited cancer syndromes.) * * Changing personal behaviors (like quitting smoking, getting more exercise, and eating a healthier diet) to reduce the risk of certain cancers Getting help to guide decisions about fertility and pregnancy Negative result. A negative test result means that the laboratory did not find the specific variant that the test was designed to detect. This result is most useful when a specific disease-causing variant is known to be present in a family. In such a case, a negative result can show that the tested family member has not inherited the variant that is present in their family and that this person therefore does not have the inherited cancer susceptibility syndrome tested for. Such a test result is called a true negative. A true negative result does not mean that there is no cancer risk, but rather that the risk is probably the same as the cancer risk in the general population. When a person has a strong family history of cancer but the family has not been found to have a known variant associated with a hereditary cancer syndrome, a negative test result is classified as an uninformative negative (that is, it typically does not provide useful information). In the case of a negative test result, it is important that the person’s doctors and genetic counselors ensure that that person is receiving appropriate cancer screening based on that person’s personal and family history and any other risk factors they may have. Even when the genetic testing is negative, some individuals may still benefit from increased cancer surveillance. Variant of uncertain significance. If genetic testing shows a change that has not been previously associated with cancer, the person’s test result may report a variant of uncertain significance, or VUS. This result may be interpreted as uncertain, which is to say that the information does not help to clarify their risk and is typically not considered in making health care decisions. Some gene variants may be reclassified as researchers learn more about variants linked to cancer. Most often, variants that were initially classified as variants of uncertain significance are reclassified as being benign (not clinically important), but sometimes a VUS may eventually be found to be associated with increased risks for cancer. Therefore, it is important for the person who is tested to keep in touch with the provider who performed the genetic testing to ensure that they receive updates if any new information on the variant is learned. Benign variant. If the test reveals a genetic change that is common in the general population among people without cancer, the change is called a benign variant. Everyone has commonly occurring benign variants that are not associated with any increased risk of disease. Genetic test results are based on the best scientific information available at the time of the testing. While unfortunately no testing can be 100% error free, most genetic testing is quite accurate. However, it is very important to have the genetic testing ordered by a provider knowledgeable in cancer genetics who can choose a reputable testing lab to ensure the most accurate test results possible.




Who has access to a person’s genetic test results?


Medical test results are normally included in a person’s medical records, particularly if a doctor or other health care provider has ordered the test or has been consulted about the test results. Therefore, people considering genetic testing must understand that their results may become known to other people or organizations that have legitimate, legal access to their medical records, such as their insurance company or employer, if their employer provides the patient’s health insurance as a benefit. However, legal protections are in place to prevent genetic discrimination, which would occur if health insurance companies or employers were to treat people differently because they have a gene variant that increases their risk of a disease such as cancer or because they have a strong family history of a disease such as cancer. In 2008, the Genetic Information Nondiscrimination Act (GINA) became federal law for all U.S. residents. GINA prohibits discrimination based on genetic information in determining health insurance eligibility or rates and suitability for employment. However, GINA does not cover members of the military, and it does not apply to life insurance, disability insurance, or long-term care insurance. Some states have additional genetic nondiscrimination legislation that addresses the possibility of discrimination in those contexts. In addition, because a person’s genetic information is considered one kind of health information, it is covered by the Privacy Rule of the Health Information Portability and Accountability Act (HIPAA) of 1996. The Privacy Rule requires that health care providers and others with medical record access protect the privacy of health information, sets limits on the use and release of health records, and empowers people to control certain uses and sharing of their health-related information. Many states also have laws to protect patient privacy and limit the release of genetic and other health information. The National Human Genome Research Institute Genetic Discrimination page includes links to more information about GINA, HIPAA, and other legislation related to genetic discrimination in insurance or employment.




How are genetic tests regulated?


U.S. laboratories that perform health-related testing, including genetic testing, are regulated under the Clinical Laboratory Improvement Amendments (CLIA) program. Laboratories that are certified under CLIA are required to meet federal standards for quality, accuracy, and reliability of tests. All laboratories that do genetic testing and share results must be CLIA certified. However, CLIA certification only indicates that appropriate laboratory quality control standards are being followed; it does not guarantee that a genetic test being done by a laboratory is medically useful or properly interpreted. The National Human Genome Research Institute has more information available on its Regulation of Genetics Tests page.




Selected References


  1. Findlay GM, Daza RM, Martin B, et al. Accurate classification of BRCA1 variants with saturation genome editing. Nature 2018; 562(7726):217-222. [PubMed Abstract]
  2. Garber J, Offit K. Hereditary cancer predisposition syndromes. Journal of Clinical Oncology 2005; 23(2):276–292. [PubMed Abstract]
  3. Hampel H, Bennett RL, Buchanan A, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genetics in Medicine 2015; 17(1):70-87. [PubMed Abstract]
  4. Lindor NM, McMaster ML, Lindor CJ, Greene MH. Concise handbook of familial cancer susceptibility syndromes—second edition. Journal of the National Cancer Institute Monographs 2008; 38:1–93. [PubMed Abstract]
  5. McGee RB, Nichols KE. Introduction to cancer genetic susceptibility syndromes. Hematology / the Education Program of the American Society of Hematology 2016; 2016(1):293-301. [PubMed Abstract]
  6. Mersch J, Brown N, Pirzadeh-Miller S, et al. Prevalence of variant reclassification following hereditary cancer genetic testing. JAMA 2018; 320(12):1266-1274. [PubMed Abstract]
  7. Riley BD, Culver JO, Skrzynia C, et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 2012; 21(2):151–161. [PubMed Abstract]
  8. Robson M, Storm C, Weitzel J, et al. American Society of Clinical Oncology Policy Statement update: Genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology 2010; 28(5):893–901. [PubMed Abstract]
  9. Spencer DH, Lockwood C, Topol E, et al. Direct-to-consumer genetic testing: reliable or risky? Clinical Chemistry 2011; 57(12): 1641–1644. [PubMed Abstract]
  10. Findlay GM, Daza RM, Martin B, et al. Accurate classification of BRCA1 variants with saturation genome editing. Nature 2018; 562(7726):217-222. [PubMed Abstract]
  11. Garber J, Offit K. Hereditary cancer predisposition syndromes. Journal of Clinical Oncology 2005; 23(2):276–292. [PubMed Abstract]
  12. Hampel H, Bennett RL, Buchanan A, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genetics in Medicine 2015; 17(1):70-87. [PubMed Abstract]
  13. Lindor NM, McMaster ML, Lindor CJ, Greene MH. Concise handbook of familial cancer susceptibility syndromes—second edition. Journal of the National Cancer Institute Monographs 2008; 38:1–93. [PubMed Abstract]
  14. McGee RB, Nichols KE. Introduction to cancer genetic susceptibility syndromes. Hematology / the Education Program of the American Society of Hematology 2016; 2016(1):293-301. [PubMed Abstract]
  15. Mersch J, Brown N, Pirzadeh-Miller S, et al. Prevalence of variant reclassification following hereditary cancer genetic testing. JAMA 2018; 320(12):1266-1274. [PubMed Abstract]
  16. Riley BD, Culver JO, Skrzynia C, et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 2012; 21(2):151–161. [PubMed Abstract]
  17. Robson M, Storm C, Weitzel J, et al. American Society of Clinical Oncology Policy Statement update: Genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology 2010; 28(5):893–901. [PubMed Abstract]
  18. Spencer DH, Lockwood C, Topol E, et al. Direct-to-consumer genetic testing: reliable or risky? Clinical Chemistry 2011; 57(12): 1641–1644. [PubMed Abstract]