Comments on: Genomes for the Curious

By: Brian Krueger, PhD

Brian Krueger, PhD — Fri, 05 Apr 2013 21:28:04 +0000

“It’s only a fraction of the whole genome, but the only part that scientists know how to interpret, for now.”

That’s a bit of a misstatement. The reason we do exome (WES) over whole genome sequencing (WGS) is mostly because of cost. WGS costs 6x as much as WES. As reagent costs decrease, so will the use of WES over WGS. The other reason we do WES is because the vast majority of inherited genetic disorders occur in protein coding regions. The sequencing data from WGS provides more variants, but many of those variants are not clinically relevant because they occur in regions that do not directly affect genes or gene expression.

By: Prabodh Jamwal

Prabodh Jamwal — Sun, 31 Mar 2013 09:52:42 +0000

Hi Virginia,
It is a thoughtful and nice treatment to an experience as a curious individual on genomics. I have a different experience about the whole genome project when it was first conceived way back in early 1980s and a student of statistics, I was studying genetics and the follow up on many things which materialised towards the beginning of 21st century in the form of genographic project. I just wanted to confirm my belief that all the people have one common ancestor on the paternal line of which results have come to a large extent. I was very happy to note that sitting in Kashmir (India), I share a common haplogroup with a person, whose body was found about 12 years back on the bio-diversity park close to Washington DC and this person had died almost 9100 years back. It is beautiful for a persons to connect with the whole lot of population across the globe. Let us see what happens in the second stage of genographic project when we can sequence the maternal line of individuals when we know that 95 percent population share a common ancestor about 70,000 years back and all the people on earth have one ancestor about 140,000 years back. Let us find the common mother and be blessed to make this world better place to live for others.
I am working as a journalist for 30 years and heading an organisation Kashmir Times Publications http://www.kashmirtimes.com.
Thanks and regards for providing new insights in the world of science.
Prabodh Jamwal

By: Virginia Hughes

Virginia Hughes — Wed, 20 Mar 2013 23:08:16 +0000

Hi Mariah,

I’m a 23andme customer, too! I’ve written about my experience on the blog a little bit: http://phenomena.nationalgeographic.com/2011/04/04/my-coffee-problem/. But the information that 23andme gives you is about common genetic variants. What Eliza got with her whole-genome sequence is far more comprehensive and potentially much more useful. (And that’s why it’s so much more expensive, too!)

By: Mariah McCormick

Mariah McCormick — Wed, 20 Mar 2013 22:58:28 +0000

Have you heard of 23andme.com? You can get similar results (and cool things like your ancestry and neanderthal ancestry) for $99. I have my sample submitted- waiting on results!

By: Preston Garrison

Preston Garrison — Sat, 02 Mar 2013 10:47:21 +0000

It certainly seems like an interesting result that her mother and uncle had signs of Usher’s when they were presumably heterozygous for the mutation(s). Or is it known to be a condition where haploinsufficiency is the norm?

By: Mark Dunning

Mark Dunning — Fri, 01 Mar 2013 16:27:16 +0000

I am the Chairman of the Coalition for Usher Syndrome Research (http://www.usher-syndrome.org) i would strongly encourage anyone with suspected Usher syndrome to confirm it via genetic testing. While there are few widely accepted treatments available today, there are a number of treatments reaching clinical trial that hold tremendous promise. Usher syndrome is not a death sentence. People with Usher live happy productive lives. There are tests available today that are covered by insurance that can identify all known Usher syndrome mutations. Please feel free to contact me if you’d like any more information about the tests or the disease.

By: Eliza Strickland

Eliza Strickland — Fri, 01 Mar 2013 15:41:10 +0000

Hi Laura, Ginny asked me to reply to your question.

Baylor’s commercial lab provides the sequencing and analysis, so the 6-page report I got was part of the standard package. My report included 1) variants with previously reported associations with adult-onset diseases, 2) mutations in genes causing recessive Mendelian disorders, 3) some pharmacogenetic results, and finally 4) a long list of variants of “unknown clinical significance” in genes associated with cancer and adult-onset diseases.

However, I was an extremely unusual case, in that I was a presumably healthy individual with no pressing medical concerns. In most cases, patients get sequenced because they’re experiencing a medical problem, or they have a family history of some problem. These patients receive reports that are much more focused on the relevant genetic information.

By: laura hercher

laura hercher — Fri, 01 Mar 2013 12:36:25 +0000

Hey Virginia: a question. What would Baylor have provided in the way of analysis, if her doctor had not been on board to write up a six-page report?

By: Eliza Strickland

Eliza Strickland — Thu, 28 Feb 2013 22:55:13 +0000

Thanks for giving the article such a thoughtful treatment, Ginny.

I do agree that even just looking at one’s genome is a useful exercise– it was fascinating to be prodded to think about my medical future in this way. And the possible DOOOOOMs that I learned about will stick in my head for a long while, I expect.