Personal genomics: opportunities for public education

OK, so this GenomeWeb Daily News article is approximately four centuries old in internet time (i.e. around a week), but it's worth going back and reading.

I've previously argued at length that although personal genomics currently offers little in the way of useful, predictive health information, that lack of information in itself represents an important opportunity to educate consumers about the fuzzy nature of common disease genetics.

So long as personal genomics companies represent the data accurately (which the major reputable companies currently do quite well, by and large), their customers will quickly get the message missed by a disappointingly large chunk of the mainstream science media: the genetic basis of common diseases is messy, complex, probabilistic and currently poorly understood. There are few illustrations of this fact more compelling than staring down a list of risk predictions based on a genome scan from 23andMe or deCODEme, and then watching them change over time as new associations are added to the database.

It appears that at least some clinical geneticists agree. The GenomeWeb story quotes a number of participants at a panel discussion on direct-to-consumer genomic testing at the American College of Medical Genetics' Clinical Genetics Meeting last week:

ACMG President-Elect Bruce Korf expressed skepticism about whether DTC
tests are reliable enough for clinical decision-making, but noted that
their availability nevertheless represents "a teachable moment" for


Korf said that ... "the danger
is that by turning our backs, little by little, as the quality
improves, it could become a very powerful approach" and the clinical
genetics community will have missed its chance to play a role.


Howard Levy of Johns Hopkins University expressed a similar view,
noting that "we've spent years wringing our hands that no one cares
we're here and have a service to offer." Now that the spotlight that
has been turned on DTC testing, he said it could serve as a means to
raise awareness of the role of clinical genetics in healthcare

Regardless of what practicing geneticists may think of DTC testing,
"the train has left the station," said Joe Leigh Simpson, ACMG's
current president. Simpson, an obstetrician, noted that he witnessed a
similar situation when home pregnancy tests first hit the market. "We
thought the sky was falling," he said.


Robert Green of Boston University School of Medicine, on the other
hand, argued for taking the "personal utility" of genetic testing into
account, citing as an example the REVEAL (Risk Evaluation and Education
for Alzheimer's Disease) study, which has shown that many patients want
information "that some find frightening" despite the fact that there is
no actionable medical treatment for Alzheimer's.

Geneticists "risk being patronizing" if they refuse to acknowledge patients' ability to make these decisions, he said. [my emphasis throughout]

Of course, these statements don't mean that the clinical genetics
community is whole-heartedly embracing direct-to-consumer genetic
testing - the ACMG released a policy statement last year arguing that "[a] knowledgeable professional should be involved in the process of ordering
and interpreting a genetic test", and during the panel discussion ACMG legal counsel Lynn Fleischer argued that when it came to DTC testing, "I've seen no indication that individuals know what they're asking for, or what they're going to get, or how they will use it" and ACMG ex-president Marilyn Jones apparently "expressed concern that the average consumer may not be able to grasp
the complexity of disease risk information based on a whole-genome scan".

There certainly is good reason for caution: there's a danger that
commercial incentives might drive personal genomics companies
(particularly those at the lower end of the market) to exaggerate the
significance of genomic health predictions, and certainly there are
some flagrant examples of precisely that among the "bottom feeders" in
the DTC genetic testing industry. But this is a motivation for creating guidelines for the responsible reporting of genetic information and independent organisations to audit and report on the claims and validity of commercial tests - not a reason to shut down the DTC genetic testing industry entirely.

It's important to view this debate in its social context, as a turf
war in which clinical geneticists are fighting an increasingly
desperate rear-guard action to defend their traditional monopoly as purveyors of genetic health information from commercial usurpers
. In that context
you can view the statements above as a kind of olive branch,
acknowledging that their may be room for compromise between the two sides.

Personalised medicine can only ever truly succeed if both clinicians and industry work together - so this is a promising sign.


More like this

"Personalised medicine can only ever truly succeed if both clinicians and industry work together - so this is a promising sign."

Since when is reselling a substandard technology as a clinical useful action, with no scientific justification, considered "industry"?

Dr. Korf said the exact same thing to me upon launch of 23andme. So this is nothing new.

It is a plain and simple fact that what he means is that if we don't speak up and educate, someone else (with far worse credentials) will......


Hey Wait. Maybe they can post educational topics on Sergey's blog.......

Oh wait, there is no Sergey Brin was just a publicity stunt.......

PR ploys, can you really expect unbiased education from DTC????


Since when is reselling a substandard technology as a clinical useful action, with no scientific justification, considered "industry"?

Just to clarify Steve's critique for any interested readers:

1. The SNP chips used by 23andMe, deCODEme and Navigenics are hardly "substandard technology" - right now they're the gold standard for reliable, large-scale analysis of genetic variation.

2. "No scientific justification" is belied by the ~300 published studies over just the last few years using exactly the same technology used by these companies to perform genome scans.

3. Steve is correct that the clinical value of these scans is currently fairly minimal, but this will change quite rapidly over the next few years as the resolution of the scans improves (approaching, eventually, complete genome sequencing) and we learn more about the genetics of common diseases.