Resource for Learning about Medical Genetic Testing

If you are a blogger, writer, or speaker who covers the topic of genetic testing, and the topic of medical genetic testing or consumer-based testing with medical implications ever comes up, please stop and read this!

Over the past year, I've been working with a group of genetic counselors on behalf of the National Society of Genetic Counselors to gather, summarize, and explain the various aspects of genetic testing that commonly lead to confusion and concern.

We developed a summary document called the "Genetic Testing Resource" listed in the section of the website See the screenshot below for where to find it.

Find the document at, where the orange arrow points. 

Find the document at, where the orange arrow points. 

The aim of the document is to address in everyday language the common questions (and myths) about genetic testing for medical purposes. Some of the many topics addressed in the 16-page document include:

·      Types of DNA that can be tested

·      Different DNA technologies and their usefulness

·      What exactly is “informed consent” for genetic testing?

·      Where do genetic counselors fit in the picture?

If you write about DNA online or in books or speak to audiences, please be extra cautious about the advice you give to others regarding medical information from consumer DNA tests (and especially the raw data to come from them). You are welcome to use quotes from this document as long as you cite it as your source.

Reports produced from raw data files from the consumer testing market and clinical genetic tests are not the same, and it’s critical that if you choose to comment on health topics, you understand how, and why. The “Genetic Testing Resource” will give you a good start.

I’m a consumer of at-home DNA testing many times over. I understand the appeal, and I understand the desire to gather medical information from any test where it’s possible.

I’m also rooted at the intersection medical genetics and consumer testing and see the benefits and limitations from an insider perspective. I don’t discourage people from pursuing information that is important to them, but I encourage everyone to learn as much as possible about the differences between types of testing and the results to come from them.

There is a lot of information that can mislead and confuse. I want you to get accurate and useful medical information, whether you chose a test from the consumer market or opt for a clinical-grade test.

Want to learn more? I've written more about "raw data" topics herehere, and here. Check out those posts if you want to learn more!