Adults with genetic disorders are a remarkable and growing population of patients. They are also underserved. Despite genetic testing being routine for many childhood-onset disorders, testing adults is not a standard practice. As a result, many adults are living with undiagnosed genetic diseases. Some are symptomatic with an inaccurate diagnosis, while many struggle to receive any diagnosis at all. Others may be asymptomatic (without symptoms) or pre-symptomatic (not having symptoms yet), with varying degrees of awareness of family health problems or other red flags that indicate the possibility of a genetic disease. Even people who have genetic diagnoses from childhood may lack a medical geneticist on their care team as adults. 

Diagnosed or not, these individuals deserve better care. Advances in cost, quality and the usefulness of genome sequencing — coupled with accelerating medical advances — have created unprecedented opportunities to save lives and improve the quality of care for impacted individuals. Genetic testing and care can decrease the financial and medical burden of undiagnosed disease, help to make emerging therapeutics safer and allow us to better treat these underserved populations. 

7 Benefits of Genetic Testing and Diagnosis

1. End to costly, time-consuming diagnostic journey

Searching for a diagnosis when you have a rare genetic disease is time-consuming, costly and frustrating. Genetic testing can result in a diagnosis that allows patients and care providers to focus on what actually matters. This means no more unnecessary tests and medical work-ups, saving time and expenses for patients and doctors alike.

2. Advocacy and support

Having an undiagnosed condition and unresolved symptoms can feel confusing and isolating. Following a diagnosis, patients will have opportunities to connect with communities of people with shared experiences and knowledge. These communities are a great resource for education, advocacy and support.

3. Insights into medical history and prognosis

Having a genetic diagnosis will help a patient and their care provider understand their past experiences and symptoms. It can even shed light on family medical history that was previously unexplained. Likewise, it helps patients (and medical providers) know what to expect for the future, including progression and timing, potential complications and risks, and overall life expectancy.

4. Informed decision-making and risk avoidance for patients

We’ve all heard that knowledge is power. A diagnosis equips patients to more confidently make decisions about their health and behaviors. It allows them to plan and prepare for disease progression. It gives them the knowledge to avoid stressors or conditions that could worsen their disease or trigger symptoms. These might include specific medicines, foods or activities. Without a diagnosis, patients could unknowingly be exacerbating their symptoms while also being subject to unnecessary diagnostic workups or treatments with inherent expense, stress and risk. Genetic testing can also be a tool for making educated decisions about starting or growing a family.

5. Improved disease management and surveillance

Armed with a diagnosis, providers can monitor disease symptoms and proactively plan for and manage progression and complications. By doing so, providers can often extend patient longevity and quality of life while helping patients to minimize unexpected expenses and hospital visits.

6. Access to treatment and disease-modifying therapies

Genetic testing can reveal various treatment options. Recent technology advances and new financial incentives for drug manufacturers to focus on rare and genetic diseases have led to a better outlook for historically untreatable and often progressive genetic disorders. Testing can even reveal which pharmaceutical drugs may be most effective based on your genes. With treatments rapidly improving and expanding, if something isn’t on the market today, multiple therapy options may be available in the coming years. In fact, the FDA expects to approve 10-20 new gene and cell therapies per year by 2025.

7. Opportunities to join clinical trials and research

Patients with a genetic diagnosis may be able to participate in research on the lifetime impacts, progression, and treatment of their disease. This work will help the medical community improve care for current and future patients, including supporting children diagnosed today as they grow and transition into adulthood. Many pharmaceutical companies are also investing heavily in gene therapy, enzyme replacement therapy, and other treatments for a growing number of rare genetic disorders. As these drugs are being developed, companies are actively seeking to diagnose and enroll more participants from diverse backgrounds in clinical trials. 

If you’re interested in genetic testing for yourself, a loved one or your patients, contact SequenceMD at or 303-832-7109 today.