FDA approves at-home DNA test kit

 What’s wrong with me?

Misdiagnosed illnesses are an unfortunate, yet common occurrence in the United States. A study conducted in 2014 reveals that approximately 12 million people in our country are improperly diagnosed in outpatient clinics each year. That staggering number is equivalent to 1 in every 20 adults. Misdiagnosed illnesses lead to wasteful spending, and in some cases these mistakes put patients’ lives at great risk. People who are faced with undiagnosed medical ailments often go through multiple costly doctor appointments and extensive series of tests to finally arrive at an accurate medical conclusion. This begs the question; Would knowing your predisposition to diseases and illness be helpful in diagnosing conditions ?

The FDA’s innovative move

The United States Food and Drug Administration (FDA) recently approved a direct-to-consumer DNA kit to test for risks associated with ten diseases. This innovative move is designed to place knowledge in the hands of individuals, enabling us to learn of our health risks to make informed decisions regarding our healthcare and lifestyle. Genetic markers for diseases can provide doctors with directions for diagnoses of specific diseases or conditions. They also help us to make medical decisions and take preventative measures whenever possible. The soon-to-be marketed test is simple, easy, non-painful, and does not require a prescription. Similar versions are already being offered in other countries, such as Canada, Sweden, and the UK.

How does the test kit work?

A customer purchases a kit and mails a salvia sample to the lab. The lab will analyze the saliva which contains DNA from cells. The DNA is isolated from the saliva sample. The lab processes the DNA on a genotyping chip that reads hundreds of thousands of locations in one’s genome. The data is analyzed and provides a personalized report based on sound scientific and medical research.

The FDA approved kit, designed by Silicon Valley-based bio-tech company 23andMe, tests for the following:

  1. Alpha-1 antitrypsin deficiency (a disorder that raises risks of lung/liver disease)
  2. Celiac disease (a disorder resulting in the inability to digest gluten)
  3. Early-onset primary dystonia (a movement disorder leading to involuntary muscle contractions and uncontrolled movements)
  4. Factor XI deficiency (a blood clotting disorder)
  5. Gaucher disease type 1 (an organ and tissue disorder)
  6. Glucose-6-Phosphate Dehydrogenase deficiency or G6PD (a red blood cell condition)
  7. Hereditary hemochromatosis (an iron overload disorder)
  8. Hereditary thrombophilia (a blood clot disorder)
  9. Late-onset Alzheimer’s disease (progressive brain disorder which destroys memory/thinking ability)
  10. Parkinson’s disease (a nervous system disorder impacting movement)

What should we know?

It is vital for consumers to know that the test results do not qualify as a diagnosis. Jeffrey Shuren, Director of the FDA’s Center for Devices and Radiological Health, explains. “It is important that people understand that genetic risk is just one piece of a bigger puzzle, it does not mean they will or won’t ultimately develop a disease.” Individuals interested in being tested should dialogue with a medical doctor and/or seek guidance from a qualified medical health counselor to address questions, concerns, and lifestyle changes.

What kits does 23andMe currently offer?

Currently, 23andMe offers various ancestry and health and ancestry tests which provide carrier, health, and wellness reports. They cost between $99 and $199. Before proceeding with any tests, it is highly recommended that you read the details about the uses and limitations of health reports on the FDA information page found at www.23andme.com

What are some concerns?

While most medical professionals agree on the benefits of testing, many doctors fear that consumer ability to receive genetic information directly, without medical advice or counseling, can be detrimental. Many fear that insurance companies will find the information and use it to disqualify people from health and life insurance purchases. Others voice these additional concerns: Will it increase anxiety in people who discover they are predisposed to certain conditions? Will test results cause people to jump to false conclusions? Will people seek treatments without the advice of their doctor? Additional legitimate concerns relate to accuracy and privacy. Are the samples or results safe? It’s imperative to research the answers to these and other questions.

What are some benefits?

Many people believe that knowledge is power. Knowing what may happen in the future provides time to arrange medical, financial, and personal affairs and may offer peace of mind. While tests results do not absolutely indicate that you will get a disease or illness, people who are predisposed can “prepare”” by taking steps such as dialoging with doctors and family members, updating their wills, increasing savings for healthcare, and taking out Long-Term Care insurance to cover expenses for an extended period of care.

Disclaimer: This article is intended to be a general resource of information and does not constitute medical, legal, or financial advice. Please contact your doctor if you have any questions or to discuss whether or not testing is right for you!

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