Thanks Nik,

I was just going to look for this information:-) My take is to remember
genetics are exploratory only at this stage as there are challenges with
knowledge about how all the genes work together, so in something like
Huntington fairly straight forward but in other conditions especially when
the factors may be epigenetic not so clear and it is expensive.

I would be in favor of this field practicing EBM based good research
standards early and not overselling assumptions and for better public
education in the area. Patients are now analyzing their own samples with
open source software and this is only going to increase. For example few
in the public know that 23 and me does not do a full genetic profile but a
short cut and that many genetic common factors have little to do with
development of disease so the potential for false positives is
considerable. Amanda Burls did an excellent short video on celiac disease
(2nd video) first one is also excellent:-)
http://www.ithinkwell.org/23-and-me-get-fda-warning-letter-who-is-next/#sth
ash.HlInk3te.dpbs  highlighting areas of concern and even the FDA plans to
crack down on industry based Twitter comments
http://www.fool.com/investing/general/2014/06/22/fda-drops-the-hammer-on-tw
itter.aspx

Best
Amy

On 6/23/14, 2:02 PM, "Makretsov, Nikita [PH]"
<[log in to unmask]> wrote:

>Surely agree genetic testing is a darkest horse to date. There is a
>growing evidence that genetic testing is not that specific as they
>initially claimed, not speaking about reproducibility, cost and the other
>issues.
>Just see below INFOPOEM by CMAJ:.
>
>Nik Makretsov
>Vancouver
>
>
>
>
>
>Accuracy of fecal DNA and fecal immunochemical test for colorectal cancer
>detection
>
>Clinical question
>How accurate are the new fecal DNA and fecal immunochemical tests as
>screening tests for colorectal cancer?
>
>Bottom line 
>Fecal DNA is more sensitive but less specific than fecal immunochemical
>testing (FIT), and as a result has a higher false positive rate. The
>fecal DNA test is also more expensive than other noninvasive alternatives
>such as FIT. We do not know which test will be better at reducing
>mortality. (LOE = 2b)
>
>
>Reference 
>Imperiale TF, Ransohoff DF, Itzkowitz SH, et al. Multitarget Stool DNA
>Testing for Colorectal-Cancer Screening. N Engl J Med
>2014;370(14):1287-1297.
>
>Study design
>Diagnostic test evaluation
>
>Funding
>Industry
>
>Allocation
>N/A 
>
>Setting
>Outpatient (any)
> 
>  Earn CME Credits
>  Discuss this POEM
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> 
> 
>Synopsis 
>Fecal DNA testing looks for abnormalities characteristic of the DNA in
>colorectal cancer (CRC), while fecal immunochemical testing (FIT) is an
>improved version of the older tests that detect fecal occult blood but
>only requires a single stool specimen. Adults aged 50 years to 85 years,
>at average risk for CRC, who were undergoing screening colonoscopy were
>invited to participate in the study. A total of 11,016 agreed, and
>underwent the required tests. Of that group, 689 were excluded because of
>an insufficient specimen for fecal DNA or a specimen that leaked in
>shipping (ick!), 304 others were excluded because of inadequate
>colonoscopy, and 34 had an insufficient sample for FIT. Of the final
>group of 9989 participants, 65 received a diagnosis of cancer. Fecal DNA
>testing was 92% sensitive and 87% specific, while FIT was 74% sensitive
>and 95% specific. Although this looks like a clear advantage for fecal
>DNA (60 of 65 cancers detected, compared with 48 of 65 for FIT), it is
>important to look a bit further. The lower specificity for fecal DNA
>meant that there were nearly 3 times as many false positive results that
>would have required a follow-up colonoscopy if fecal DNA was the sole
>screening test (1231, vs 472 for FIT). Using fecal DNA, there would have
>been 22 colonoscopies per cancer detected, compared with 11 using FIT.
>Also, fecal DNA testing requires the entire stool specimen, collected
>using a small bucket that hangs in the toilet, and costs approximately
>$400 to $800 (FIT costs approximately $3 to $40). Remember, because CRC
>takes several years to progress from adenoma to cancer, a FIT test could
>be performed annually at a much lower cost and likely detect many of the
>initially missed cancers in subsequent years.
>
>
>
>
>
>-----Original Message-----
>From: Evidence based health (EBH)
>[mailto:[log in to unmask]] On Behalf Of Juan Gérvas
>Sent: Sunday, June 22, 2014 2:21 AM
>To: [log in to unmask]
>Subject: EBM and genetic testing
>
>-is genetic testing, and treatment, out of EBM focus?
>Medicina Basada en Pruebas. Vivimos en la Era de la Genética.
>Prepárese para las pruebas genéticas en sanos.
>EBM. We are living in the Genetic Era. Be prepared. Screening an
>asymptomatic person for genetic risk.
>http://www.nejm.org/doi/full/10.1056/NEJMclde1311959?query=featured_home
>-un saludo
>-juan gérvas
>@JuanGrvas