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Exciting Developments In Genetic Testing For Proactively Managing Health

Healthcare and consumers are well on their way to embracing the benefits of genetic research and tests, but the most exciting part is the increasing pace of research, tests, and knowledge that the rapidly growing genetics field is producing. 

At the same time, there has been a lot of hype around the field's immediate potential with a flood of tests into the market, causing confusion about the validity of some tests and bringing into question a number of practical methods, tools, and tests.  Given the overwhelming volume of information, we’ve summarized what we know below.

First, and perhaps most important, the field is developing so rapidly that we won’t be surprised if new research, findings, and tests are available by the time we publish this, so don’t be afraid to ask labs, wellness centers, physicians, and other health providers what they have learned lately or if there are any new diagnostic tools or emerging tests.

There are many different types and uses of genetic testing, and it’s important to understand that tests are broken into two groups:  director to consumer (D2C) tests and physician-directed tests.

D2C tests do not require a physician order, and they include:

  • Relationship testing.  Widely available, many people are familiar with ancestry and paternity DNA tests to confirm relationships.  These can be personal, used in court (family law cases), or needed for immigration.  Tests are commonly used to identify/confirm parents, missing people, sisters, uncles, grandparents, and ancestry.
  • Forensic testing can identify an individual for legal or personal purposes.  For example, tests can identify catastrophe victims and rule out or identify crime suspects.
  • Healthy lifestyle tests for the purpose of general wellness and encouraging people to become more engaged in their overall health and lifestyle decisions.  This category includes an increasingly wide range tests covering nutrition (absorption) tendencies to athletic ability, skin health,  biological age, weight management, CBD metabolism, and more.
  • Pharmacogenetics Tests provide information regarding the role genetics may play in an individual's reaction to drugs. 

Physician-directed tests require a physician order, because they are intended to diagnose (or rule out) existing and potential health problems and diseases.  As a result, unfavorable test results require additional medical consultations.  Tests in this category include:

  • Diagnostic testing to identify and rule out a specific genetic or chromosomal condition before birth or at any time during a person's life.  Test results often influence a person's choices about health care and management of the disorder.
  • Newborn screening to save lives and prevent disability in thousands of infants every year by identifying certain conditions promptly after birth. Information is power, and testing can lead to early treatments and interventions for some genetic disorders, preventing severe and irreversible disability.
  • Carrier testing to identify people who “carry” a genetic disorder. This type of testing is often offered to young couples to determine the couple's risk of having a child with a genetic condition.
  • Prenatal testing during pregnancy to determine if there is an increased risk that a baby will have a genetic or chromosomal disorder. These tests cannot identify all possible inherited disorders and birth defects.  However, affordable and much more comprehensive testing doesn’t look far off due to progress with fetal whole genome sequencing (FWGS).  This means medical providers and parents are likely to have much more information about the health and risk factors of new babies, but this also presents new ethical quandaries.
  • Preimplantation genetic diagnosis testing (PGD) to reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. 
  • Predictive and presymptomatic (health risk) testing that identifies individuals at risk of getting a disease prior to the onset of symptoms.  This is often tried when someone has a family history of a specific disease and an intervention is available to prevent the onset of disease or minimize disease severity. 

Today, the Food and Drug Administration (FDA) is watching manufacturers of these tests closely, and they have stopped companies from marketing tests that make claims that are not supported by clinical research.  In addition, the FDA has encouraged consumers to report problems with any Direct-To-Consumer test through MedWatch, the FDA’s voluntary reporting program.

Conclusions About The Genetic Tests That Focus On Health

There are benefits to all types of genetic tests, but it’s important to understand the objectives of the tests, the costs, the limitations, and the actions required when results are provided.

  • The physician-directed tests are heavily regulated and, as a general rule, there is an extra level of expertise in the mix.  These are not direct-to-consumer tests.  Physicians are required to order them, because they are focused on diagnosis and serious health risk factors that may require counseling (e.g., cancer, prenatal, newborn, and carrier testing).  Also, it appears that tests in this category have had to meet rigorous criteria and must be approved by the FDA (e.g., clinical studies, repeatable results, etc.).  Each person should discuss these tests with his or her physician before these tests are ordered, because additional actions may be critical when results arrive.
  • For Direct-To-Consumer (D2C) tests, consumers should self-educate as much as possible (e.g., from the manufacturer, health providers, labs, FDA), seeking information about safety concerns, costs, test objectives, and expected actions when results arrive.

For example, the FDA has issued a safety communication to alert the public of concerns regarding pharmacogenetic tests with unapproved claims to predict an individual's response to a specific therapeutic drug where these claims may not be supported by clinical evidence.   

Since healthy lifestyle tests are designed to encourage people to become more engaged in their overall health and lifestyle decisions, the FDA has taken a different position with these tests.  In general, D2C “tests for non-medical, general wellness, or low risk medical purposes are not reviewed by the FDA before they are offered.” Often, this type of test provides health insights related to food, exercise, and other activities that are associated with longevity.  However, there are some D2C tests for moderate to high risk medical purposes, and “these may have a higher impact on medical care.”  As a result, they are generally reviewed by the FDA to determine the validity of test claims.  


For more information about any DNA testing available locally, feel free to visit our DNA services page or contact our lab directly.  Given the volume of DNA tests we complete for individuals, healthcare providers, and lawyers, we have dedicated staff onsite with extensive knowledge to support your needs.