There have been multiple news articles and press
releases recently regarding new companies that are
offering products and services geared towards allowing
the consumer to learn more about their “personal
genome”.
Much of our genetic information (over 99%) is
identical across all humans. So, it is the variations
within our DNA that contribute in large part to the
differences between us. “Genotyping” refers to the
process of analyzing and recording the genetic
variations within an individual’s genome. There are
multiple ways genotyping can be done.
Navigenics, 23andMe and DeCODE are offering
genotyping via analysis of single nucleotide
polymorphisms, also known as “SNPs” (pronounced ‘snips’)
that represent differences between single nucleotides,
or base pairs, within our genetic code (DNA). SNPs are
one kind of variation within DNA and are scattered
throughout our genome. Most SNPs cause no differences in
appearance / physical attributes or disease risk, but
some do – and these are the ones that new personal
genomics companies are going to focus on.
In contrast to SNP analysis, the company Knome is
using a different genotyping method known as sequencing.
Sequencing involves determining the order (or
‘sequence’) of letters of the genetic code along the
length of a piece of DNA – including both the letters
that do not vary among humans, and those that do. Knome
is currently the only commercial company offering whole
genome sequencing.
The table below gives an overview of the features of
the products and services offered by each company –
based solely on information we were able to glean from
the company websites.
|
Company name
|
Navigenics
|
23andMe
|
deCODE
|
Knome
|
|
Name of the product /
service (if different from company name)
|
Health Compass
|
|
deCODEme
|
|
|
Technology currently
used
|
SNP analysis
|
SNP analysis
|
SNP analysis
|
Sequencing
|
|
# of SNPs currently
analyzed
|
1 million
|
600,000
|
1 million
|
n/a
|
|
SNP chip provider
|
Affymetrix
|
Illumina
|
Illumina
|
n/a
|
|
Sample type
|
Saliva
|
Saliva
|
Buccal swab
|
Not specified
|
|
Are all results
(data and/or currently available
interpretation)) given to me when the initial
analysis is completed?
|
Website is not completely clear on this; results (raw data)
may be released to the customers with current
subscriptions as relevant scientific studies are
published
|
yes
|
yes
|
yes
|
|
Will I get automatic
updates as new scientific information relevant
to my genotype is learned from research?
|
yes - but only while you are a current subscriber
(subscriptions are for one year)
|
yes
|
yes
|
Specific update services not clear from website: “Once
your entire genome has been sequenced, you will
be able to stay current on future genetic
discoveries as they become available”
|
|
Will my analysis
provide information about the association of
genetic variations with disease risk(s)?
|
The company website notes that SNPs analysis related to
“about 20 actionable medical conditions” will be
included. No list posted on the website yet.
|
Current analysis includes SNPs related to risk for:
o
Breast Cancer
o
Crohn's Disease
o
Heart Attack (Myocardial Infarction)
o
Multiple Sclerosis
o
Obesity
o
Prostate Cancer
o
Restless Legs Syndrome
o
Type 1 Diabetes
o
Type 2 Diabetes
o
Lactose Intolerance
o
Venous Thromboembolism
|
Current analysis includes SNPs related to risk for:
o
Age-related macular degeneration
o
Asthma
o
Atrial fibrillation
o
Breast Cancer
o
Celiac Disease
o
Colorectal Cancer
o
Exfoliation Glaucoma XFG
o
Inflammatory Bowel Disease
o
Multiple sclerosis
o
Myocardial Infarction
o
Obesity
o
Prostate cancer
o
Psoriasis
o
Restless legs
o
Rheumatoid arthritis
o
Type 1 Diabetes and Type 2 Diabetes
o
Lactose intolerance
|
The company website notes: “we will sequence your genome and will provide you with a comprehensive
analysis of the results under the direction of a
leading geneticist”
|
|
Does the company
providing the service suggest that my results
could be used to guide my medical care?
|
Yes – from their website: “The
company will help people understand their
genetic predisposition to
disease and arm them
with information about what actions to take to
help them stay healthy”
|
No – from their website: “What
we do not and will not do is provide medical
advice to our customers” Further…”
we have no way of evaluating our customers' health or medical needs,
and we make every effort to clarify this for our
customers”
|
No – from their website: “We wish to emphasize that deCODEme is not a
clinical service to be used as the basis for
making medical decisions”
|
Not clear from website
|
|
Is any consultation
with a healthcare provider included in
the cost of the service?
|
Yes- (a genetic counselor)
|
No
|
No
|
Yes- (participation of a ‘leading geneticist’ is mentioned
– the amount of interaction nor what specific
training this person will have is clear from the
website)
|
|
Will I get any
information on how my genes relate to my
physical attributes?
|
|
Current analysis includes SNPs related to:
o
Bitter Taste Perception
o
Earwax Type
o
Muscle Fiber & Sports
|
Current analysis includes SNPs related to:
o
Hair & eye color
|
|
|
Will I get information
about my genetic ancestry?
|
|
Current analysis includes SNPs related to:
o
Mitochondrial (maternal) inheritance;
o
Comparison of genetic similarity to people from
different geographic regions
|
Current analysis includes SNPs related to:
o
Mitochondrial (maternal) inheritance
o
Y-chromosome (paternal) inheritance
o
More promised in the future at no additional
cost
|
Not clear. Website notes: “beyond health-related applications, your sequenced genome can provide
insights into your own ancestry and genealogy”
|
|
Will I be able to
compare my genome to:
|
|
|
|
|
|
·
Family
|
|
Yes – for relatives who have purchased the service also
|
Yes – for relatives who have purchased the service also
|
|
|
·
Friends
|
|
Yes – for friends who have purchased the service also
|
Yes – for friends who have purchased the service also
|
|
|
·
Celebrities
|
|
Yes- (including Marie Antoinette, Jesse James, Jimmy Buffet
and Ben Franklin)
|
Yes- (only Craig Venter and Dr. James Watson at this point)
|
|
|
How much does it cost
?
|
$2,500 for the initial year subscription; $?? for
subsequent years.
|
$999
|
$985 “Special introductory price”(additional features in
the future may cost more)
|
$350,000 (the company is seeking 20 initial customers)
|
