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

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  22. I have been married for 7 months, i was 5 months pregnant, i love my husband so much, but he treated me so badly we fought because i have found numerous other emails, and texts on his phone from other women, i became so tired of of his womanizing behavior, worrying all the time, and i was always scared when i am not with him . one night he came back drunk, he also came with the another lady, when i i tried to confront him, he immediately started hitting me and he pushed me out the house and ask me to leave, i was lost and confused, i was stranded that i have to find a help from anywhere then i came across a spell caster Manifest Spell who had saved many marriage so as i emailed Dr. Manifest and he told me what is needed and after 3 days, he restored my marriages, i and my husband came back together as a married couple again, i am so so so so happy, my marriage was saved by manifestspellcast@yahoo.com

  23. Hi, I am Thomas Gregory, from Houston, Texas, USA. I was living with herpes for almost 8 months, i was not myself, my body was always inching with pains until i was on the internet searching for a cure. So luckily, i was reading testimonials of clients who was cured of herpes by the amazing spell caster named Dr. Okija, an ancient spell doctor from West Africa. I contacted him by email, and within 72 hours, my herpes disease was cured up. All thanks to the superb healing spell of Dr. Okija.You too can get in contact with him today if you wanna be cured from any sickness you having by email: dr.okijaspellshrine@hotmail.com Thank you so much great one.. I will continue to testify of your goodness to the universe.

  24. I never believed in spell casting, but After 6 years of dating, I still imagine how Dr Aza brought my ex lover back to me in just 24 hour. No one could have ever made me believe that there is a real spell caster that really work. am sandra by name,I want to quickly tell the world that there is a real on line spell caster that is powerful and genuine, His name is Dr Aza, He helped me recently to reunite my relationship when my ex lover who left me, When i contacted Dr Aza he cast a love spell for me and my ex lover who said he doesn’t have anything to do with me again, he called me and started begging me. he is back now with so much love and caring. today i am glad to let you all know that this spell caster have the powers of bring lovers back. because i am now happy with my lover,and the most surprise,is that our love is very strong,every day is happiness and joy. and there is nothing like been with the man you love.i am so happy my love is back to me with the help of Dr.Aza if you have similar problem i will advice you to contact him ,he is there to help you and put a smile on your face. his email: azaspellcaster@gmail.com or you can whats app his line:+2348107155060.

  25. Hello My name is myers, Am from USA, Texas. and I am very happy for posting on this blog on how a great spell caster helped me in bringing back the love of my life. I know there are lots of women like me out there who have done so much to have back their Husband, I am here to tell you all to search no further because the answer is right here. I sincerely believe if there are up to five spell casters like Dr Paul this world would be a better place, I have seen people complaining on how fake spell castes promised to help them but couldn’t but with Dr Paul I tell you your problem is solved already. My Husband and I had been apart for 3 YEARS and I couldn’t bear without living without him, I have tried everything to have him back but nothing was working until I saw numerous testimonies about a spell caster called Dr Paul and how great his work is. I contacted him via email (salvationlovespell@gmail.com) immediately and follow the step that he ask and in the next 48 hours my lover called me and was eager for my forgiveness and that he wished nothing more than to have me in his arms forever. I filled so much joy and happiness that I found Dr Paul I hope you all here will find this testimony of mine and get your husband back in just 48 hours thanks… contact his email:salvationlovespell@gmail.com

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