Tuesday, August 7, 2007

American Society of Human Genetics speaks out on DTC testing

After a wonderful conference call with some friends regarding the future of personal genomes, I was heartened to see ASHG put out a statement on Direct To Consumer (DTC) testing. Here is what these learned individuals say.

Currently, DTC genetic testing is permitted in about half the
states2 and is subject to little oversight at the federal level. In July
2006, the Government Accountability Office issued a report documenting
troubling marketing practices by some DTC testing
companies,3 and the Federal Trade Commission (FTC) issued a
consumer alert cautioning consumers to be skeptical about claims
made by some DTC companies

While DTC testing also encompasses paternity and ancestry testing,
this policy statement addresses solely those genetic tests that
make health-related claims or that directly affect health care decision

For a test to be of good quality,
the laboratory performing it must be able to obtain the correct
answer reliably, meaning that it detects a particular genetic variant
when it is present and does not detect the variant when it
is absent. A test’s accuracy is referred to as “analytic validity.”
Further, there must be adequate scientific evidence to support the
correlation between the genetic variant and a particular health
condition or risk—the so-called clinical validity.

Currently, the federal government exercises limited oversight
of the analytic validity of genetic tests and virtually no oversight
of their clinical validity.

Several complaints have been filed and
are pending with the FTC about a specific DTC genetic-testing
company, and the FTC recently issued a consumer alert warning
the public that “some of these [DTC] tests lack scientific validity,
and others provide medical results that are meaningful only in
the context of a full medical evaluation.”

So there in lies the problem. They have several solutions.

I. Transparency
To promote transparency and to permit providers and consumers to
make informed decisions about DTC genetic testing, companies must
provide all relevant information about offered tests in a readily accessible
and understandable manner.

a. Companies offering DTC genetic testing should disclose the
sensitivity, specificity, and predictive value of the test, and the
populations for which this information is known, in a readily
understandable and accessible fashion.

b. Companies offering DTC testing should disclose the strength
of scientific evidence on which any claims of benefit are based,
as well as any limitations to the claimed benefits. For example,
if a disease or condition may be caused by many factors, including
the presence of a particular genetic variant, the company
should disclose that other factors may cause the condition
and that absence of the variant does not mean the
patient is not at risk for the disease.

c. Companies offering DTC testing should clearly disclose all risks
associated with testing, including psychological risks and risks
to family members.

d. Companies offering DTC testing should disclose the CLIA
certification status of the laboratory performing the genetic

e. Companies offering DTC testing should maintain the privacy
of all genetic information and disclose their privacy policies,
including whether they comply with HIPAA.

f. Companies offering DTC testing and making lifestyle, nutritional,
pharmacologic, or other treatment recommendations
on the basis of the results of those tests should disclose the
clinical evidence for and against the efficacy of such interventions,
with respect to those specific recommendations
and indications.

The Sherpa Says:

I am still waiting for the data from Salugen/Luxor...........hmmm I wonder why? Wake up people, this field is filled with snake oil salesmen!!!!


Anonymous said...

Let's consider DTC Gene-chips (since single gene testing is not cost effective in the least and will soon be obsolete anyway).

Affymetrix now has a clinical services laboratory that recently was CLIA certified.
There latest chip has 1.8 million SNPs.

How will Gene Chips be accessed to help patients with disease predisposition and pharmacogenomics?
Direct to Consumer or through the physician?

In this country, you cant just walk into a clinic and get a basic metabolic panel done. In Brazil you can. Do we want this country to be a place where you can walk in and get your GeneChip done? Or, require a lab slip from a physician and the information remains with the physician unless you request it?

Brian Meshkin said...

Steve -

Again, a very good post and as soon as there is time, I will send you everything on Salugen. So, please cut out the "ad hominem" attacks against Salugen. They are not based upon any evidence whatsoever, but rather your rush to judgement on a press release.

As someone who claims to have a M.D. degree, I know you have gained enough education to understand the importance of objectivity in your rhetoric. In fact, Salugen does perform its testing in a high-complexity CLIA-certified laboratory. Our interpretation and report section for each of our genes tested is backed up by published scientific evidence (which we cite in the reports which can be a little complicated for the consumer). We also collect observational data on the genotypes analyzed and consistently measure them against well-established literature controls to evaluate ongoing statistical significance. We report this data in our reports and we report other findings related to significance as well (for example, check out one of our publications related to this surveillance - Blum K, Chen TJH, Meshkin B, Blum SH, Mengucci JF, Arcuri V, Waite RL, Braverman ER. The PPAR-gamma Pro12Ala allele polymorphism of the Peroxisome Proliferator-Activated Receptor (gamma) Gene (PPARG2) Is a Risk Factor With a Self-Identified Obese Dutch Population. Gene Ther Mol Biol. Vol 11, 37-42, 2007.). And, we also disclose the statistical validity of the genes.

Forgive me for saying this, but it is taking some time for my team to get all of this information in a text form to publish on a blog and I am not confident if I just email it to you that you will objectively report it. If I post the evidence in text form, then everyone can see the truth themselves. Can I count on you to post the evidence? Or will there just come more "reductio ad absurdum" conjecture about Salugen being a "snake oil salesman" because we provide DTC genetic testing?

Just have a little patience, as taking information in .pdfs, etc. and ensuring that it can be posted on a blog is a sizable task.

Thank you for your patience.

Hercules said...

I have some sympathy for Salugen in this regard - the reflexive attitude of most MDs (on any health related subject) is that anything that bypasses them must be worthless or snake oil. Having said that, the problems we faced at Suracell before we gave up on DTC genetic testing are covered by Steven in Recommendations (a) and (b) with the key phrase being "readily understandable" -- we found that presenting all the available data overwhelmed consumers (and turned them off), but presenting a summary did not fulfill the mission in terms of validation of the results and a meaningful informed recommendation: in my (difficult) experience, a complex test result does need to be mediated through a qualified, trained health care or genetic professional in a one-to-one process to have much value. So maybe the MDs and "genetic experts" have a case, even if they seem a little overwrought about the whole subject!

Steve Murphy MD said...

I am sorry to have caused such a stir by my opinion. I am certain there are several realms where direct lab testing are ok....but complex testing is not one of them. Genetic tests are not yes/no tests. Pregnancy tests yes, HIV tests yes, BRCA testing/CF Testing NO. Please do not forget that geneticists have had 4 years of medical school 3 years of residency and 2 years of fellowship training. That's almost a whole decade trying to prepare to explain the complexity of these tests. How could anyone hope to get up to this speed via website? And I am still awaiting Brian's data. I will post it for everyone to analyze....