If you’ve been researching your health and genetics, you may come across the terms genetic screening and genetic diagnostic testing. SequenceMD offers both services for our patients, and the two offerings have very different purposes.
What Is Genetic Screening?
Genetic screening is a way to learn if you have an increased risk for certain genetic conditions. Think of it as a first step to see if there’s a reason to look more closely at your DNA and your health needs. If you take a genetic screening test, a medical provider or genetic counselor will help you understand your results. These tests do not definitively tell if you have a condition. Instead, a genetic screening test reveals whether you are at high risk and should seek additional testing and diagnostics. Screening tests can also help you assess the chances that your future offspring will have a certain condition.
Who Receives Genetic Screenings?
Genetic screening is usually offered to people who are healthy or don’t yet have symptoms. For example, almost all newborns receive genetic screenings. Individuals who are pregnant or considering starting a family are also common candidates for carrier screening. Carrier screening helps people understand their risk of having children with serious inherited disorders, even when both partners are healthy. Many people carry recessive or X-linked conditions that may not be discovered until after a child is affected. Tests can detect conditions such as cystic fibrosis, spinal muscular atrophy, Tay-Sachs disease, and fragile X syndrome before pregnancy. This information allows families to make informed choices about their future.
People with a family history of a condition are also common recipients of genetic screening tests. For example, suppose a patient has a family history of early-onset, rare, or multiple cancers. A genetic screening may lead to the discovery of an inherited cancer predisposition. Early identification can enable screening protocols, risk-reducing interventions (including preventive surgery), and proactive care for patients and their relatives.
What Is a Genetic Diagnostic Test?
Geneticists use diagnostic testing when they already suspect or have seen signs of a genetic condition. These can range from unexplained symptoms to unusual disease progression or a lack of response to treatment. The goal of a genetic diagnostic test is to confirm (or rule out) whether you actually have a specific condition. For example, a genetic diagnostic test may
- Test for cystic fibrosis when symptoms are present
- Confirm a genetic connective tissue disorder
- Identify the exact genetic change causing a rare disease
Diagnostic testing is more precise than screening. In many cases, a diagnostic test provides a more thorough, in-depth look at your genome. The results can give you and your care team clear information to guide medical treatment, lifestyle choices, and family planning.
Who is Genetic Diagnostic Testing For?
A doctor may recommend a genetic evaluation and diagnostic testing for anyone with concerning screening results or a possible genetic disorder. A strong family history of a condition may also be a reason to do a diagnostic test.
What’s Next After Genetic Screening or Testing
Genetic screenings help identify people who need further testing, while diagnostic tests deliver certainty that screening alone often cannot. Both play important roles in healthcare. Screening can catch potential issues early, and diagnostic testing ensures the right treatment and support when needed.
If you’ve had a screening test and the results revealed a high risk, or if you have a family history of a genetic condition, talking with a genetics professional is the best next step. Visiting a genetics clinic can offer many benefits for adults and children. A geneticist can explain what your results mean for you and your family and discuss what should happen next. They can help you and your care team develop a uniquely personalized and targeted plan for health monitoring, preventive treatments, medication management, risk avoidance, family member testing, and more. They can also advise on opportunities to get involved in clinical trials and research.
The Genetics Team at SequenceMD is Here for You
SequenceMD uses the power of medical genetics to help people of all ages find answers and navigate their unique health needs. Our clinical team provides comprehensive genetic evaluations, education, and testing for patients to ensure you always understand your options, results, and individual health needs.
Contact us for more information or ask your care team for a referral.
