Home Testing Kit Now Available for Self-Testing of Predisposition to 10 Genetic Diseases

There are countless diseases out there, some caused by infectious microorganisms and others by our own bodies when certain organs or systems aren’t functioning as they should. For example, catching a cold is usually due to an acute infection from bacteria or a virus, while asthma results from the immune system overreacting to allergens, making it difficult to breathe.

Some of these conditions, particularly those involving malfunctioning cells or systems, have their roots in our genes, or DNA. These genetic-based diseases can run in families and are often passed down from parent to child. A couple of well-known examples are Hemophilia and Cystic Fibrosis.

In early April 2017, the US Food and Drug Administration (FDA) approved a home testing kit developed by 23andMe, a company renowned for offering ancestry information to consumers. This new kit allows users to test for predispositions to ten different genetic-based diseases, all from the comfort of their homes. The process is simple: just provide a saliva sample, send it to the lab, and wait for the results.

*Image credit: Atlanta Journal-Constitution*

23andMe had initially released a similar genetic disease predisposition kit in 2014. However, the FDA halted its sales, concerned about the potential for inaccurate results, particularly false positives, which could cause unnecessary worry or stress. Since then, 23andMe has collaborated closely with the FDA to ensure the kit delivers accurate results. They have emphasized clear instructions to help users provide uncontaminated saliva samples, a crucial factor for reliable outcomes.

The FDA’s recent approval of this kit marks a significant milestone. It allows individuals to learn about their genetic predispositions to certain diseases privately, without the need for a doctor’s visit. The kit can identify more than half a million genes related to ten diseases, including:

Parkinson’s disease
Late-onset Alzheimer’s
Celiac disease
Primary dystonia (a movement disorder)
Alpha-1 antitrypsin deficiency (affecting the lungs and liver)
Factor XI deficiency (a blood clotting disorder)
Gaucher disease type 1 (a tissue and organ disorder)
G6PD deficiency (a red blood cell disorder)
Hemochromatosis (excess iron accumulation)
Hereditary Thrombophilia

At $99, the kit is reasonably priced, considering it screens for multiple genetic predispositions at once. However, it’s essential to remember that a positive result for any of these genes does not guarantee the development of the disease. Many factors, including lifestyle choices, play a significant role in whether a disease actually manifests over time. This kit can help people discover if they need to make lifestyle changes to reduce their risk of developing certain conditions if they carry the associated genes.

If you test positive for any disease gene with this kit, it’s wise to consult with a doctor or genetic counselor. They can provide guidance on how to manage or reduce the risk of the condition developing.

Looking ahead, 23andMe aims to expand the range of genetic predisposition tests available, empowering more people to understand their genetic heritage and take proactive steps toward their health.

Gentle Reminder: This article is not intended as a substitute for professional medical advice. Always seek appropriate medical assistance when necessary.

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