Genetics plays an important role in shaping a person’s health and susceptibility to disease. Recent advances in genetic testing technology have made reading the genetic code faster and less expensive, enabling more people to use information from their DNA to make informed medical decisions. Additionally, cutting-edge genome editing technology is offering new treatment options for people with certain genetic diseases.
Learn more about how genetics is related to health and how genetic information can help doctors, scientists, and individuals make informed decisions below.
Diagnosis
Genetic tests play a pivotal role in diagnosis, providing invaluable insights into the underlying genetic factors contributing to various diseases. By analyzing an individual’s DNA, genetic tests can identify variants associated with certain conditions, allowing for early detection and personalized treatment plans. These tests can diagnose a wide range of disorders, from hereditary conditions like cystic fibrosis and Huntington’s disease to predispositions for certain cancers. Moreover, genetic tests can also predict responses to specific medications, enabling tailored treatment strategies.
For people with rare diseases, genetic tests often end a prolonged diagnostic odyssey, a long journey of visiting multiple doctors and undergoing many medical tests before receiving a diagnosis. Analyzing a person’s DNA is often the key to diagnosing patients with rare conditions when other approaches have failed.
The information gleaned from genetic tests not only aids in accurate diagnosis but also plays a pivotal role in disease management and prevention, ultimately improving patient outcomes and quality of life.
Drug Development & Effectiveness
Doctors and scientists may use genetic information when prescribing medications or developing new drugs to treat diseases linked to specific genetic variants.
In recent years, pharmacogenetic testing has been developed to find the most effective medication or dosage based on a person’s genetic makeup. This type of testing can inform how well a medication may work for a person and how likely they are to experience negative side effects or even a fatal reaction. Many medications, such as antivirals, painkillers, and psychiatric drugs, may work differently in different people based on their genetic makeup.
Personalized medicine, also called precision medicine, considers a person’s genetic information to tailor the prevention, treatment, and management plan. For example, new cancer drugs are tailored for people with specific gene mutations. Additionally, several medications have been developed to target particular genetic variants in a subset of people with conditions like Duchenne muscular dystrophy or cystic fibrosis.
Diagnosis
Genetic tests play a pivotal role in diagnosis, providing invaluable insights into the underlying genetic factors contributing to various diseases. By analyzing an individual’s DNA, genetic tests can identify variants associated with certain conditions, allowing for early detection and personalized treatment plans. These tests can diagnose a wide range of disorders, from hereditary conditions like cystic fibrosis and Huntington’s disease to predispositions for certain cancers. Moreover, genetic tests can also predict responses to specific medications, enabling tailored treatment strategies.
For people with rare diseases, genetic tests often end a prolonged diagnostic odyssey, a long journey of visiting multiple doctors and undergoing many medical tests before receiving a diagnosis. Analyzing a person’s DNA is often the key to diagnosing patients with rare conditions when other approaches have failed.
The information gleaned from genetic tests not only aids in accurate diagnosis but also plays a pivotal role in disease management and prevention, ultimately improving patient outcomes and quality of life.
Drug Development & Effectiveness
Doctors and scientists may use genetic information when prescribing medications or developing new drugs to treat diseases linked to specific genetic variants.
In recent years, pharmacogenetic testing has been developed to find the most effective medication or dosage based on a person’s genetic makeup. This type of testing can inform how well a medication may work for a person and how likely they are to experience negative side effects or even a fatal reaction. Many medications, such as antivirals, painkillers, and psychiatric drugs, may work differently in different people based on their genetic makeup.
Personalized medicine, also called precision medicine, considers a person’s genetic information to tailor the prevention, treatment, and management plan. For example, new cancer drugs are tailored for people with specific gene mutations. Additionally, several medications have been developed to target particular genetic variants in a subset of people with conditions like Duchenne muscular dystrophy or cystic fibrosis.
Genome Editing for Health
Since many diseases have a genetic cause, researchers are exploring genetic-based treatments to address these diseases at their source. New genome editing technologies allow researchers to cut DNA strands and alter their functioning. Genome editing techniques can deactivate faulty genes or be used to insert or delete pieces of DNA code.
The world’s first genome-editing-based treatments for sickle cell disease (SCD) and beta-thalassemia were launched in 2023. While the success of these treatments provides hope for treating other genetic diseases, their high cost makes them inaccessible to most people.
Determinants of Health
In the past, people believed in genetic determinism, where genes were thought to control everything from your height to your income. This idea was challenged by the understanding that your environment—including things like diet, education, and where you live—plays a huge role, too. The debate on what was more important for human health was called “nature vs. nurture”—nature being your genes and nurture being your surroundings.
Now we know it’s more complex. Both genes and environment are determinants of health, which are elements in your life that affect your health and well-being. Examples of determinants of health are your physical environment, access to health services, social and economic environment, employment conditions, and more. Some determinants, like your habits, you can change. But others, like your genes or upbringing, are harder to control. Throughout your life, your health keeps changing as your genes and environment interact with each other.
Genetic Counselors
The world of genetic testing can be overwhelming, with countless tests available and complex information to process. Genetic counselors (GCs) are experts who help people understand genetic testing and make informed decisions. They advise on which tests are relevant, explain the pros and cons, and prepare patients for the results.
But the role of a GC goes beyond just tests. They act as supportive companions throughout the process. If patients have reservations about testing due to personal beliefs or cultural reasons, GCs provide a safe space to discuss their concerns. They help patients explore all aspects of the decision, considering scenarios they might not have thought of before.
The journey doesn’t end with the test results. GCs equip patients with the knowledge and resources they need to navigate their new reality. They connect people with patient organizations and support services, ensuring they have a network to lean on as they adapt to this new information.
Key Questions in Genetics & Health
- Would you want to know your likelihood of developing a disease if there are no ways to prevent or treat it as of today?
- Would you select for certain traits in your child?
- Should people be required to get counseling from a doctor or genetic counselor when receiving genetic testing results?