Should You Get Your Whole Genome Sequenced?

Many companies have now started offering Whole Genome Sequencing (WGS) services to customers. 23andMe had recently put up a test page on their website to gauge customer interest for WGS services. WGS services are being promoted by several companies such as Helix on social media and other forums. This has lead to many unanswered questions among consumers and one of the most common being, “Should I get my whole genome sequenced? If yes, what are the benefits?”.

What is the difference between Whole Genome, Whole Exome sequencing and genotyping?

Human genome has three billion bases. Each of these are genetic data points that may or may not account for some function in the human body. You can either selectively read those data points that are considered to be of interest (genotyping), or read all the data points (whole genome sequencing), or read the data points that are well known to be associated with body functions (exome sequencing). Genotyping typically costs about $90 or so, where as sequencing could cost anywhere between $700 to $2000 depending on the lab and coverage.

Do I need Whole Genome Sequencing?

The answer for most people is not right now.

For the following reasons:

a) It still costs hundreds of dollars. It is expected that the costs will come down significantly in the next three or so years. In 2017, Illumina Inc., introduced NovaSeq, a scalable high throughput genome screening technology, as a preamble to the $100/genome effort. In the next three to five years, you can expect to have it done for between $50 to $100.

b) The technology is constantly improving. The quality of the data is improving significantly. Waiting for few more years will get you more accurate data than what is available today for cheaper.

c) We do not know the meaning of more than 90% of the genome: Cost aside, much of the genome is not going to be useful to most people with the scientific knowledge that we currently possess.

d) Whole genome files are large, making storage and retrieval cumbersome and data safety is also a concern. In the next few years data storage and security will improve allowing you to safely handle your genetic data through blockchain and other security measures.

Unless you are being asked by your physician, you do not need Whole Genome Sequencing. Genotyping is sufficient for ancestry reports. In fact post the disappearance of the temporary WGS webpage, 23andMe spokesperson had confirmed to TechCrunch that there are no active initiatives to introduce WGS services and that genotyping allows them to focus on more specific traits that may be of interest to customers.

On the other hand Helix.com considered the “health” competitor to 23andMe do full-fledged sequencing tests. Let’s look at some of the pros and cons of getting tested from Helix.com

Pros:

  1. Much more data than 23andme or other ancestry tests

Cons:

  1. Much more expensive ($500 just to get your raw data).

2. Much of the data wont be useful to you as there is not available scientific evidence on this data

3. In a few years, you will be able to get your whole genome sequenced for less than this price

Our opinion:

Unless prescribed by your doctor, you can skin this sequencing based tests for now.

If you are not in a hurry, you should wait about three years or so, to get your whole genome sequencing done.

Below is a select list of companies offering whole genome and whole exome sequencing services with their prices:

For more on current genotyping analysis and what you can do with your DNA raw data check out this popular article.