Pathway Genomics: Interview November 30, 2009
Posted by Dr. Bertalan Meskó in Genetic testing, genetics, Genome, Interview, Medicine, Personalized medicine, Web 2.0.7 comments
Some months ago, I wrote about the importance of customer service in the life of direct-to-consumer genomic companies. After the post, Pathway Genomics contacted me and said they were excited to speak more openly about their service. They also want to educate the community on genetic testing services and what these test results will and will not tell you. Here is the interview they have recently given to me.
- Pathway Genomics is one of the newest competitors in the DTC genomics market. How do you aim to make a difference?
Quality. Pathway has a wholly owned federal CLIA and California State licensed laboratory. This onsite lab removes any “middle-man” issues. DNA samples are collected in Pathway’s custom-designed DNA collection kits and shipped directly to Pathway’s laboratory in San Diego, California. Genetic testing services, across five different technology platforms (including gene sequencing) are carried out by staff geneticists. Genetic health, lifestyle, and family history data and ancestry data are interpreted using unique algorithms developed by Pathway. Genetic test results are reviewed by medical staff and genetic counselors for accuracy and then reported via our online secure web site. When appropriate, our genetic counselors will contact customers to present and review their data. At any time, customers can contact Pathway’s Genetic Counselors for help understanding their genetic information.
Content. Pathway offers genetic testing services for both health and ancestry. As part of Pathway’s genetic health testing service, customers can learn about their propensity to develop disease, sensitivities to prescription drugs, or carrier status for mutations causing monogenic disorders. In the case of drug responses, Pathway is the market leader and reports on nearly a dozen different drug responses and adverse reactions. This includes clopidogrel (Plavix), statins, oral contraceptives, and certain cancer fighting treatments. This is important information because not all drugs are effective for all people and in some cases can cause adverse reactions.
Price. Genetic tests ordered through traditional medical outlets may be cost prohibitive for consumers. Pathway offers genetic health and ancestry testing services that are easy and affordable, with tests starting at $99. And for less than $350, consumers can access both health (drug response, carrier status, health conditions) and genetic ancestry tests.
- How many Single Nucleotide Polymorphisms do you test and how many of them do you really use for the analysis?
As of today, Pathway reports on 71 health conditions, including tests for health diseases (24), drug responses and adverse reactions (10), and carrier status (37). Pathway shares this number because this is the information we believe helps consumers choose a genetic testing service right for them. Concerning the number of SNPs tested, we do not disclose this information, as we believe this to be competitive in nature and not informative to the consumer until otherwise validated by research.
- You analyze drug responses, among other features. How accurate are these tests? I mean if you tell me I have a variance in my CYP2C9 gene, should I ask my GP to change the level of Coumadin I’ve been prescribed to?
Pathway has taken great effort to validate the accuracy and specificity of all the markers we report. Our standards exceed those required for federal CLIA certification. Therefore, you can be assured that the genotypes you receive from Pathway are highly accurate. That said, if Pathway told you that you had a genetic variation in your CYP2C9 gene that increased your sensitivity to Coumadin (Warfarin), we believe it’s important to share this information with your physician and discuss a personalized treatment plan based on this genetic data.
- I don’t totally understand the concept behind the 100% money back guarantee. If I think my results don’t represent my real genetic background properly (e.g. because my family history predicts something different), I can get my money back?
Ultimately, we want each of our customers to feel confident about the information they receive about their genetic health or ancestry tests. While some people may not “like” what they learn about their genetic information, we want to do our best in serving our customers. Therefore, if for any reason a customer is not happy with their genetic testing service we will offer them 100% money back.
- Please tell us about your plans for the near future? How do you plan to improve the service?
It’s important to continue to educate consumers, physicians, and the genetics community at large about the benefits associated with genetic testing services-specifically, what genetic testing can and can’t tell you. As the research community continues to make discoveries linking genetic variations to complex diseases, drug responses, etc., we will translate this information into an easy to understand format for our customers, thus helping to make personalized medicine a reality.
H1N1: Information can be Beautiful November 29, 2009
Posted by Dr. Bertalan Meskó in Medicine, Visualization.add a comment
Information can really be beautiful if it is presented and referenced properly. There is a huge dataset of H1N1 related information visualized in a perfect way on one of my favourite blogs. An excerpt:
Check the whole image here and also the resources of the data.
The Lung Flute November 29, 2009
Posted by Dr. Bertalan Meskó in Innovation, Medicine, Medicine 2.0, Video.1 comment so far
I’ve recently come across quite an interesting medical innovation on BoingBoing. It could help millions of people suffering from COPD, flu, cystic fibrosis or asthma.
The Lung Flute is a simple device that uses sound waves to vibrate wads of mucus in your chest cavity until they rip apart and become more easily cough-up-able. (For better or for worse, the ultimate “results” of using the Flute are not shown in the above video.) Handy, certainly. But why, you may be wondering, would such a thing end up on Popular Science’s list of The Best Innovations of 2009? Easy. It’s because you and your common cold are not the primary audience for a Lung Flute concerto.
Most Creative Presentation Ever: E-patient Stories in Limerick November 26, 2009
Posted by Dr. Bertalan Meskó in e-patient, Health, Health 2.0, Medicine, Medicine 2.0, Video, Web 2.0.1 comment so far
Kevin, MD has recently shared a video of Better Health’s Val Jones who is a fellow blogger of mine on Better Health Network, and who gave a presentation at the e-Patient Connections 2009 Conference. She used limericks to tell the stories of two e-patients. What is a limerick? Here is an example:
- The limerick packs laughs anatomical
- In space that is quite economical,
- But the good ones I’ve seen
- So seldom are clean,
- And the clean ones so seldom are comical.
Pew Internet Research: Healthcare FAQ November 26, 2009
Posted by Dr. Bertalan Meskó in Health 2.0, Healthcare, Medicine, Medicine 2.0, Web 2.0.1 comment so far
A few months ago, I wrote about the latest Pew Internet Research report that focused on online health information and the world of e-patients. I also shared excerpts:
61% of American adults look online for health information.
In 2000, 46% of American adults had access to the internet, 5% of U.S. households had broadband connections, and 25% of American adults looked online for health information. Now, 74% of American adults go online, 57% of American households have broadband connections, and 61% of adults look online for health information. We use the term “e-patient” to describe this group.
American adults continue to turn to traditional sources of health information, even as many of them deepen their engagement with the online world.
A majority of e-patients access user-generated health information.
Now Susannah Fox who is an Associate Director of the Pew Internet & American Life Project and principal author of the Project’s survey reports on e-patients and online health, published a fantastic and very useful guide for interpreting Pew Internet data dedicated to healthcare.
Best Science Visualization and Music Videos of 2009 November 26, 2009
Posted by Dr. Bertalan Meskó in science, Video, Visualization.add a comment
Wired Magazine always publishes some interesting videos dedicated to science and, let’s say, fun. Here are the entries and a few sample videos.
Best Science Visualization Videos of 2009
Volume rendering is a technique used to display two-dimensional data in three-dimensional space. ImageVis3D is a new volume-rendering program developed by the NIH/NCRR Center for Integrative Biomedical Computing, designed to be simpler, faster and more interactive than standard volume-rendering programs. This video demonstrates some of the key features of ImageVis3D and gives examples of the type of data it can render in three dimensions.
Surgical Videos Now and in the 1930s November 24, 2009
Posted by Dr. Bertalan Meskó in Surgery, Video, Web 2.0.3 comments
Every time I check Or-Live.com, I’m amazed by the number of quality surgical videos uploaded there. They actually stream videos from surgeries live. State-of-the-art content.
But if you browse the Wellcome Library, you will find surgical videos from the 1930s created by the British Medical Association. A few examples:
Also Bob Coffield just published photos of medical records written in the 1930s. Nice way to compare the old system to the new one. Has it changed a lot?
From 2D MRI to 3D XBOX November 24, 2009
Posted by Dr. Bertalan Meskó in Medical Imaging, Medicine, Medicine 2.0, Radiology, Video, Virtuality, Visualization.add a comment
Magnetic resonance imaging opened a new chapter in the history of medical diagnostics, but it still cannot answer all the questions. Researchers at the Iowa State University came up with a wonderful solution. They developed a software, BodyViz, that can convert common 2D MRI and CAT scans into 3D visualizations, enabling physicians to navigate inside the body using an Xbox controller.
Two-dimensional imaging technologies have been used in medicine for a long time, said (BodyViz co-founder) Eliot Winer, an Iowa State associate professor of mechanical engineering and an associate director of Iowa State’s Virtual Reality Applications Center. But those flat images aren’t easily read and understood by anybody but specialists.
“If I’m a surgeon or an oncologist or a primary care physician, I deal with patients in 3-D,” Winer said.
(The creators) like to quote a doctor who told a reporter that when preparing for complex procedures, “2-D is guessing and 3-D is knowing.”
Scienceroll.com: Weekly Introduction November 23, 2009
Posted by Dr. Bertalan Meskó in Medicine.add a comment
I would like to share my favourite and ongoing projects with you so I can give you a proper introduction to Scienceroll.com. You can also find me on Twitter or on Friendfeed.
For news and articles about the impact of web 2.0 on medicine and healthcare, please follow the Medicine 2.0 Friendfood room.
For news and articles about personalized medicine and genetics, please follow the Gene Genie Friendfeed room.
Medicine 2.0 University Course: This is the third semester of the first university course that focuses on web 2.0 and medicine for medical students. Now, almost 100 students attend the 20 slideshows through 10 weeks and they fill a survey out before and after the course.

Medicine 2.0 Collection: I maintain the biggest collection of links and posts focusing on web 2.0 and medicine.
Webicina.com is my service that aims to help medical professionals and patients enter the web 2.0 era by providing them with e-courses, consulting and personalized packages.
PeRSSonalized Medicine is a free tool that lets you select your favourite resources and read the latest news and articles in one personalized place. You can create your own “medical journal” and as we are totally open to suggestions, let us add the journals, blogs and websites that you would like to follow.
Scienceroll Search is a personalized medical search engine powered by PolyMeta search and clustering engine. You can choose which databases to search in and which one to exclude from your list. It works with well-known medical search engines and databases and we’re totally open to add new ones or remove those you don’t really like.

List of biomedical and scientific community sites: More than 30 communities with links, descriptions and screenshots.
List of Biomedical video sites: Almost 40 sites featuring scientific or medical videos and videocasts.














