ICHG2011: Debating the future of genome sequencing is medicine

Yesterday night at the International Congress on Human Genetics we had a debate, entitled “Current and Emerging Sequencing Technologies: Changing the Practice of Medical Genetics”. You can see the full list of participants here.

The debate was pretty lively, and in parts both enlivening and depressing. Below are a few points that I found interesting.

As always, you can find more coverage of ICHG on twitter (@lukejostins for me, #ICHG2011 for aggregated coverage).

Different perspectives

Joris Veltman described his exome sequencing of 500 individuals with intractable disease, and noted that there has been much success, and very little evidence of harm. Ségolène Aymé mentioned NIH targts that hope to see almost all genetic diseases diagnosed by 2020, and new treatments for rare diseases to be developed simultaneously. There seemed to be a solid consensus across the panel that sequencing should be rolled out as a standard tool in the diagnosis of genetic diseases, provided that the approach is a targeted one, restricted to finding the pathogenic mutation(s) causing the disease.

More controversial was the role of sequencing of healthy individuals, and the general return of data to patients or doctors for any reason other than directly diagnosing a genetic disease. Rade Drmanac, chief scientific officer of Complete Genomics, was obviously strongly in favour of everyone having their genome sequenced, and made it clear that Complete Genomics intends to start offering sequencing to doctors in the future. In his vision, genomes are sequenced at birth, and an initial analysis of immediately actionable results (e.g. potential genetic diseases) is passed to the doctor and patient, with further analyses being carried out if and when they are required.

Michael Hayden immediately dismissed this as hype. He pointed out how unable the US is to handle medical sequencing, with no good systems of reimbursement, a massive shortage of genetic councilors, and a general lack of training in the medical profession.While more positive in general, Louanne Hudgins also expressed worries about the lack of knowledge of genetics among doctors, with some truly scary examples of MDs failing to understanding even the most basic genetics.

Squabbling versus consensus building

The debate was lively, and very interesting, but started to get frustrating as time went on, and more questions and comments came from the floor. At times it seemed like a consensus might be in sight, but there was also a whole morass of squabbling that seems to get in the way. Those who are strongly in favor of rolling out sequencing argue against the conservative elements that they see as throwing out obstructions in the form of unfounded worries, and just want to defend their paternalistic tendencies against the onslaught of patient freedom. Those who are against argue against the liberals on the grounds that they are hyping the tech, and haven’t properly considered the welfare of the patients.

However, neither side really seems to fundamentally disagree on the findings of fact. Getting informed consent is difficult, but not impossible, or at least not more impossible than for other medical tests. There need to be more genetic councilors, and better education of doctors, but this is increasingly happening, and good annotation software and communication of genetic results will help things along (and is also happening). Genome quality is still not perfect, we need to ensure things are validated, and the associated costs are still relatively high. There exists some actionable information in the genome (the amount grows every year), and in the right circumstances this could improve treatment and prevent disease, but the efficacy of this approach, and its cost effectiveness, will need to be carefully assessed.

I feel that the time for debate is drawing to a close. If we wanted to we could keep on fighting, accusing each other of being clueless scientists who have never treated a patient, or out-of-date clinicians scared of new technology, or sequencing company shills who are only interested in selling genomes. However, the age of the genome is arriving whether we like it or not as a larger number of companies are now offering genome sequence for commodity prices, and we need to start getting ready. Both Michael Hayden and Louanne Hudgins ended the session with a plea to the American Society of Human Genetics and related societies to start to set out standards for the use of genomes in medicine. Now is the time to be finding things to agree on, to compromise on those that we don’t, and forge a consensus on which the future of genomic medicine can be built.

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4 Responses to ICHG2011: Debating the future of genome sequencing is medicine

  1. from the rest of the world who could not attend: thanxx so much for the coverage.

  2. Hi Luke,

    Thanks for the updates – they’re much appreciated.

    I have to admit, I’m somewhat shocked by Dr. Hayden’s point in rebuttal to Dr. Drmanac’s “hype”, which seems to be that the U.S. isn’t ready for it, so it shouldn’t happen. First, I hope the argument was more nuanced than that. (I know how hard it can be to encapsulate someone’s argument when blogging!) Second, I find that reason to be entirely obtuse… there are many other big markets outside of the U.S. that HAVE figured out how to deliver health care to their citizens, even if it is a fine balancing act.

    RANT: Whether we like it or not, medicine moves forward when we find new diagnostic tools – and this one has the potential to provide good diagnostic tools. The fact that it also can provide more nuanced information that we have to learn to interpret is no reason to shy away from the technology as a whole. Doctors will learn how to use the information when it gives them a better tool for saving lives, and improving the quality of life for their patients. /RANT.

    At any rate, I hope the conference is going well, and I appreciate the bits of information you’re able to share! Thanks again!

  3. I, too, want to thank you for summarizing what took place at the meeting between the “conservatives” and “liberals.” It sounded like the halls of Congress with those that want to stick their heads in the sand (genomic analysis has no place in medicine) versus those who feel, like I do, that genomics is the medicine of the future. The bottom line is that insurance carriers, doctors and governing bodies need to get their act together. People as evidenced by “Occupy WallStreet” are no longer content to let the power elite dictate how to use information. Squabbling over turf or scientific partisanship does not improve the quality of life for patients.

  4. Thanks for the coverage!

    I am definitely a ‘liberal’ when it comes to sequencing, and the venues in which it should be applied. I think that the diagnostic benefits that can be obtained will revolutionize medicine.

    I would also agree that current US medicine is not ready for routine clinical sequencing. However, I think that the rate of development of genomics and genetics provides the US healthcare industry an opportunity to evolve over the next decade. Open more Genetic Counseling programs in order to train more counselors. Improve on genetic training of doctors. And take the opportunity to educate the general public.

    I see these challenges as opportunities, not insurmountable obstacles. There in lies hope for success.

    Keep up the great blog.

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