Precision Medicine and Genetic Testing

Precision medicine may sound like a new term, but the concept has been around for years. According to the US National Library of Medicine, precision medicine is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.”

Though the approach is emerging, the concept is not. Think of it this way: when someone needs a blood transfusion, they’re not given blood from a randomly selected person. Instead, to reduce the risk of complications, the blood type of the recipient and donor are matched. 

Benefits of Precision Medicine

Precision medicine can help you protect your health and navigate health conditions by:

  • Knowing your family health history
    A family history of certain diseases can increase your risk for developing a disease. By knowing your family health history, you can help your doctor take steps to prevent the disease or in some cases, find it early. If you’re at high risk for certain diseases, your doctor may recommend genetic testing.
  • Getting screened before you have symptoms
    Screenings, like colon or breast cancer screenings, can help your doctor detect a disease before you begin having symptoms. 
  • Tailoring disease prevention
    Some people have genes that make it more likely they’ll inherit or be at risk for a condition. By using a precision medicine approach, your doctor can give you a more tailored approach to prevention, which could include increased screenings, medications or surgery.
  • Personalizing disease treatment
    Precision medicine allows your doctor to provide targeted treatment. If you have a disease, your doctor may treat you with a medicine they know is more effective for people with disease due to genetic changes. Or, your doctor may not prescribe you a certain medication because you have a gene variant that makes you more likely to suffer side effects. 

Precision Medicine and Cancer Treatment

Precision medicine is used to provide cancer patients with tailored treatments based on the genetic changes in each patient’s cancer, notes The National Institutes of Health’s National Cancer Institute. 

Precision Medicine v. Personalized Medicine

The medical community has been using the terms precision medicine and personalized medicine interchangeably, but there are differences between the two. Personalized medicine is what it sounds like, a physician delivering a treatment plan based on a person’s personal attributes (sex, age, pre-existing conditions, etc.), precision medicine takes the personalized medicine approach much further by adding genetic data. 

Combining your genetic data with your lifestyle, clinical and medication history, gives doctors and researchers the ability to identify patterns and genetic changes that could impact the success or failure of your treatment. 

How Does Genetic Testing Work?

If you’re confused about genetic testing, you’re not alone.

In recent years, DNA testing has become a much more accessible and widely accepted diagnostic solution. Today, testing is available for more than 2,000 conditions, according to the National Institute of Health (NIH).

Doctors across the world use these powerful tests to help identify risks, make diagnoses and select appropriate treatments. And due to the recent proliferation of direct-to-consumer (DTC) test kits, people are more familiar with the concept than ever before.

However, while many people have heard of genetic tests, the internet is rife with conflicting information. To dispel inaccuracies and ensure you have the facts, we’re breaking down everything you need to know about genetic testing for diseases.



What is Genetic Testing?

A genetic test is a medical assessment that identifies changes or variants in genes, chromosomes or proteins. After collecting a sample, such as a saliva swab, technicians analyze DNA to gather data about a suspected disorder.

The results of a test can help doctors diagnose a disease, or tell you whether you’re at risk for developing or passing down a genetic condition.

There are many different types of genetic tests, and each was developed for a different set of use cases.

For example, some tests help healthcare providers identify genetic diseases in infants and unborn babies, while others tell patients whether they’re a “carrier” of a disease-causing genetic variant. Certain tests help doctors learn more about how a patient’s body processes a specific medicine so they can choose the best treatment for their condition. Extensive DNA tests combine data on a patient’s genetics, medical history, biomarkers and environmental factors to provide a highly comprehensive overview.

Who Should Get Genetic Testing?

Your physician or a genetic counselor will be able to determine if you are a candidate for genetic testing. Choosing whether to complete a genetic test is a highly personal decision and something you should discuss with your healthcare provider. Furthermore, a genetic counselor will be able to provide you with additional information about a test, what the results could mean for you and your family. These professionals can guide you through the genetic testing process and help you navigate insurance coverage.

You may be a good candidate for genetic testing if you identify with any of the following:

  • Several members of your family were diagnosed with the same disease
  • You’re experiencing symptoms consistent with many diseases, which makes it difficult for your doctor to provide you with a clear diagnosis
  • You have a chronic condition, like pancreatitis, and want a more personalized treatment plan

However, your physician or genetic counselor will be able to determine if genetic testing is appropriate for you.



Next Steps After the Test

If you decide to move forward with genetic testing, you’ll receive either positive, negative or uncertain results. You and your doctor or genetic counselor should review these results together to ensure you know exactly what they mean.

In some cases, you may also meet with a geneticist or genetic counselor who can provide additional insight into your results and support your care team in putting together the best possible treatment plan.

Identifying, diagnosing and treating complex and chronic conditions can be a complicated and frustrating experience for both patients and their healthcare providers. By using genetic tests, doctors can get a better insight into diseases and disorders, provide personalized care and drive better patient outcomes.

For More Information

Genetic Testing Discussion Guide

Use this guide to have a more informed discussion with your healthcare provider about genetic testing for pancreatitis and whether it may be beneficial for your care.

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