Testing
Consumer genotyping
- 23andMe uses a customized Illumina chip which covers 18891 of the 38350 snps in SNPedia. $99 one time payment, lifetime membership
- FamilyTreeDNA uses an Illumina OmniExpress for autosomal ancestry testing at a $289 price point, including raw data download. It covers 4310 of the snps in SNPedia.
- Pathway Genomics offers various kits for Ancestry and Health, but seems not to release raw data and so isn't of much use with Promethease.
- Complete Genomics offers full human genome sequencing for $5k as a service for researchers.
- Knome offers direct full genome sequencing for $95,000
- The Personal Genome Project aims to recruit 100,000 volunteers and publish their genomes and medical information
- Coriell Personalized Medicine Collaborative is free, but returns information on only 32 snps which meet IRB approval
- Illumina http://everygenome.com web site
Genetics & Public Policy Center Aug 2011 list of DTC companies
http://dnatestindex.com/providers/ provides a larger list
See also testing experiences
NEJM sets realistic expectations. Also note that current Affymetrix and Illumina microarray chips as used by 23andMe, deCODEme and others cover less than 50% of all likely genome variation at even 50% efficacy.[PMID 17726055]
Reminder: the heritability of medical conditions varies widely, from conditions that show little inherited genetic influence to those that are almost completely genetically determined (such as cystic fibrosis). A list summarizing some published heritability estimates for various medical conditions is available. We are also summarizing some average lifetime risks for many of these same conditions on the Lifetime Risk page.
Note: Anyone who wishes genetic counseling may find a counselor directly through several means, completely independent of the gene testing companies. In the U.S., the primary sources include the National Society of Genetic Counselors, asking your doctor, and checking with your healthcare insurer. If you are a qualified physician or genetic counselor interested in helping individuals interpret their genomic test results, please email us at info@snpedia.com as we intend to release a list of such individuals in the future.
At SNPedia, we have begun to collect pages about people's testing experiences. A particularly thoughtful article (among others) has been published by psychologist Steven Pinker (My Genome, My Self) based on his pondering his own DNA chip and (partial) DNA sequence data; it's well worth reading.
In the US, some people are wary of having genetic tests performed due to concerns over the possible use of genetic information by potential employers or insurance (health or life) companies in the absence of federal legislation banning genetic discrimination. Federal legislation known as GINA, the Genetic Information Nondiscrimination Act, was signed into law on May 21, 2008. Most states, but not all, have passed legislation providing either genetic privacy protection or some degree of protection against discrimination. The NIH/NHGRI maintains webpages about genetic discrimination primarily the federal level, and the National Conference of State Legislatures maintains a webportal surveying laws related to many aspects of genetics in different states.
For an interesting discussion (and possible solution) of the ways in which SNP/disease patents may threaten you or your physician from learning things about your health, see this article.
Related topics Ancestry Nutrigenomics
Single Gene Tests
- DNA Direct offers a $500 Mail-In DNA test of TCF7L2 for risk of type-2 diabetes [1]
- Ambry Genetics offers genetic testing for cystic fibrosis. You can see some of the Ambry related discussion the cysticfibrosis.com forums
- Myriad's direct-to-consumer BRCA2 testing is drawing criticism (or is it advertising?) eyeondna
- AssureRx tests ~50 SNPs in six genes (CYP2C9, CYP2D6, CYP2C19, CYP1A2, SLC6A4 and HTR2A) in an effort to provide psychiatrists with data on which of 26 FDA-approved drugs might be best to use with a given patient
- GeneTests lists many labs performing (primarily) classical single gene tests, but has good advice about gene tests in general.
http://www.dnagenotek.com/network.htm lists many providers using a popular DNA collection system
Even after getting significant results about genetics risks for breast and ovarian cancer many women take no action.
Paper on testing using the Illumina platform.
The research effort, which will be centered on tamoxifen, is the latest in a rapidly growing field of studies linking individual genetics to the safety and efficacy of specific prescription drugs. Genotyping for the study will be performed using the FDA-cleared Roche AmpliChip CYP450 test [2]
A hybrid microarray + nextgen sequencing approach [3]
The results from 23andMe and deCODEme are not identical.
Many physicians are not up to date regarding genetics and genomics. Several online modules can now be found online, from both academic and commercial sources. One commercial source with modules designed for medical students may be accessed (with registration and $) at the Genetic Solutions website.
