At SequenceMD, we’re passionate about integrating genetics into primary care. Genetic testing and evaluation were once cost-prohibitive and rarely covered by insurance. Today, costs have dropped, and insurance coverage is increasing. At the same time, scientific research and development has vastly enhanced our ability to improve patient outcomes by incorporating genetics into primary care. Below are four areas where genetics can make a real difference for patients across their lifespan.
1. Managing Medications and Side Effects
In pharmacogenomics, scientists study how our genetic makeup affects our response to medication. It is a rapidly growing field, with ongoing research into the genetic basis of drug response in various populations. Essentially, researchers have found that your genes influence how you respond to different drugs. Genetic variations affect the way you absorb, distribute, metabolize, and eliminate medicine from your body. These variations impact medication effectiveness and safety.
By collaborating with a geneticist to obtain pharmacogenomic information, healthcare providers can tailor the dosage and choice of medication to your DNA. This can help to optimize treatment plans and overall outcomes. Pharmacogenomic insights can also allow primary care providers to predict, prevent, and treat adverse drug reactions. For example, pharmacogenomics could enable a physician to find the best medication type and dosage for reducing a patient’s depression while avoiding negative side effects.
2. Informing Reproductive Decisions
Carrier screening is a genetic test used to identify people who carry and could pass on a genetic mutation to their children. When an individual or couple is pregnant or planning to have children, carrier screening can determine the chances of a child being born with a genetic disorder.
Carrier screening typically requires a blood or saliva sample. The results can help couples make informed decisions about their reproductive options. If both members of a couple carry a genetic mutation that causes a particular disorder, there is a higher risk that their child will be affected. In this case, the couple may choose to use assisted reproductive technologies, such as in vitro fertilization, to reduce the risk of having a child with the disorder.
Physicians may recommend carrier screening if you have a family history of a particular genetic disorder. The same applies for people from ethnic groups with higher rates of certain genetic disorders. It is important to note that carrier screening does not diagnose a disease in an individual. Instead, it indicates the likelihood of that person passing on a genetic mutation to a child. Anyone interested in carrier screening should speak with a genetic counselor to learn more.
3. Identifying Health Risks
Polygenic risk scores estimate the chance that an individual will develop a particular disease or trait. These scores are based on the presence of multiple genetic variations, or alleles, associated with that trait. Geneticists can calculate polygenic risk scores by analyzing your DNA and looking for the specific genetic markers associated with the trait or disease in question. The more markers that are present, the higher the risk score.
Polygenic risk scores can predict the likelihood of developing a range of conditions, including complex diseases such as diabetes, heart disease, and cancer. Geneticists can also use polygenic risk scores to predict select traits like height, intelligence, and susceptibility to addiction. Primary care providers can use this information to recommend relevant preventive measures and help individuals make more educated, healthier choices. For individuals at high risk of a particular disease, care providers may wish to do disease screening or provide a targeted intervention to reduce the risk of developing the disease.
For patients who have already been diagnosed with a particular disease, polygenic risk scores help guide treatment decisions. For example, a high score for heart disease may indicate an increased risk for cardiovascular problems. This result might lead your doctor to suggest cholesterol-lowering medications, blood pressure control, or other proactive therapies.
If you’re concerned about your risk for a disease, remember that this testing only indicates inherited susceptibility. While the scores can inform preventive action or treatment decisions, they are not a definitive predictor of whether you will develop any particular trait or condition. As with carrier screening, genetic counseling can help you better understand the meaning and use of polygenic risk scores.
4. Diagnosing and Managing Genetic Disorders
Up to 10% of people have a genetic disorder, but very few adults have ever received clinical genetic evaluation. Many adults currently live with undiagnosed genetic diseases and unexplained symptoms. Others have no symptoms now but are at risk for future onset.
By sending patients to a geneticist for clinical testing and analysis, primary care providers can acquire vital information for diagnosing and managing genetic conditions. Genetic testing and evaluation can give many patients with unusual, complex, or unexplained symptoms answers about their health and a clearer path forward. Some of the common red flags for genetic diseases include:
- A disease occurring (or progressing) earlier than usual
- A condition developing without the standard risk factors
- The same medical issue appearing in multiple locations
- The presence of unrelated primary diseases
- An intellectual or developmental disability
Primary care providers should also consider genetic testing and evaluation for anyone with a family history of:
- Cardiovascular disease
- Neurological conditions
- Congenital malformations
- A known or suspected genetic disorder
Individuals with genetic or metabolic disorders often require multi-specialty care. Genetic diagnoses provide deep clinical insight into the natural history, comorbidities, management, and prognosis of the disorder. A genetic diagnosis can equip all of the physicians involved to improve health outcomes and initiate preventive measures. Absent a genetic evaluation and diagnosis, undiagnosed patients are vulnerable to endless and expensive diagnostic work-ups, failed therapies, and comorbid complications.
Advocating for the Use of Genetics in Primary Care
Of these areas, primary care providers are likely most familiar with carrier screening and polygenic risk scores. Even so, the onus may be on you as a patient to ask about seeing a genetic counselor or geneticist. This may be even more true for using pharmacogenetics or seeking evaluation or diagnosis for a genetic disorder.
If you’re interested in seeing a geneticist, SequenceMD specializes in the identification, diagnosis, and management of rare or inherited genetic conditions in adults. Located in Denver, Colorado, we offer telemedicine and in-person services and are licensed to see patients in Colorado, Wyoming, Arizona, Montana, New Mexico, Kansas, and Michigan. Contact us to learn more and speak with our genetics care team.