How to get exome or genome sequencing?


Clinical Sequencing

Step 1 - Ordering Physician

First thing you will need is a physician who will order the test. This often includes a Geneticist and a Genetic Counselor but it can be other types of specialists too.

Things to know;

  • Not all physician are willing to order a sequencing test.
  • Physician have differing knowledge of what the results mean and what to do next.
  • You can seek second opinions if you don’t feel your physician meets your expectations

Resources:

Step 2 - Insurance

Check to see if your health insurance will cover the cost of a clinical sequencing test.

Things to know;

  • Many companies who provide clinical sequencing have a staff member dedicated to helping patients navigate their insurance companies to see if and how much they will cover.
  • If insurance covers sequencing it is more likely to cover clinical whole exome sequencing vs clinical whole genome sequencing.
  • Each clinical labs reports the findings differently

Resources:

Step 3 - Crowdfunding

Crowdfunding is another way of fundraising, which can help cover the whole cost or the amount that isn’t covered by insurance.

Things to know;

  • There are many different websites that provide a platform for individuals to receive donations.
  • Crowdfunding & Fundraising doesn’t work for everyone
  • You can seek other ways of getting financial support for sequencing from local, statewide or national organization that provide funding opportunities through applying for grants or scholarships for items not covered by insurance.

Resources:

Other things you should know about clinical sequencing;

  • Clinical sequencing will only report on finding that have some indication that relates to the clinical signs and symptoms that was given to them by the ordering physician.
  • Some hospitals or clinics have their own sequencing lab that may be a mix of clinical and research
  • There may be challenges with both research and clinical testing when trying to bet get blood drawn in your local area

 

Research Sequencing

Step 1 – Referring Physician

First thing you will need is a physician who will refer you to a research program. This often includes a Geneticist and a Genetic Counselor but it can be other types of specialists too.

Things to know;

  • There are many research programs and physicians don’t know about all of them.
  • You may need to seek out a research program and share that with your physician.
  • If your physician doesn’t respond well to your request, you can seek second opinions.

Resources:

Step 2 - Research Program

You will need to find a research program to be involved with, if your health insurance will cover the cost of a clinical sequencing test.

Things to know;

  • Your physician may suggest a research program that they are familiar with
  • There are many research programs and they often have different criteria in order to be in the program.
  • Many research programs don’t have fee.
  • You may need to travel to the program or it may be as simple as sending a blood sample
  • Some research programs will cover the cost to travel

 Resources:

Other things you should know about research sequencing;

  • Research can take a long time and may not have a time line of completion
  • Some hospitals or clinics have their own sequencing lab that may be a mix of clinical and research
  • There may be challenges with both research and clinical testing when trying to bet get blood drawn in your local area