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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23 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.

  5. Sarah Amimora

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  6. Olivia Phimzile

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  7. Marian Rateb

    My husband and I have been married for about 7 yrs now. We were happily married with two kids, a boy and a girl. 3 months ago, I started to notice some strange behavior from him and a few weeks later I found out that my husband is seeing someone. He started coming home late from work, he hardly care about me or the kids anymore, Sometimes he goes out and doesn’t even come back home for about 2-3 days. I did all I could to rectify this problem but all to no avail. I became very worried and needed help. As I was browsing through the internet one day, I came across a website that suggested that Dr Unity can help solve marital problems, restore broken relationships and so on. So, I felt I should give him a try. I contacted him and he did a spell for me. Three days later, my husband came to me and apologized for the wrongs he did and promise never to do it again. Ever since then, everything has returned back to normal. I and my family are living together happily again.. All thanks to Dr Unity . If you need a spell caster that can cast a spell that truly works, I suggest you contact him. He will not disappoint you. This is his E-mail: Unityspelltemple@gmail.com .

  8. Sheila Taylor

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  9. Monica Brown

    My name is Monica Brown, and I base in USA…My life is back!!! After 1 years of Broken marriage, my husband left me with two kids . I felt like my life was about to end i almost committed suicide, i was emotionally down for a very long time. Thanks to a spell caster called Dr Mohammed, which i met online. On one faithful day, as I was browsing through the internet,I came across allot of testimonies about this particular spell caster. Some people testified that he brought their Ex lover back, some testified that he restores womb,cure cancer,and other sickness, some testified that he can cast a spell to stop divorce and so on. i also come across one particular testimony,it was about a woman called Sonia,she testified about how he brought back her Ex lover in less than 2 days, and at the end of her testimony she dropped Dr Mohammed’s e-mail address. After reading all these,I decided to give it a try. I contacted him via email and explained my problem to him. In just 48hours, my husband came back to me. We solved our issues, and we are even happier than before Dr Mohammed, is really a gifted man and i will not stop publishing him because he is a wonderful man… If you have a problem and you are looking for a real and genuine spell caster to solve all your problems for you. Try High monicaspiritualtemple@gmail.com anytime, he might be the answer to your problems. Here’s his contact: monicaspiritualtemple@gmail.com or call him +2348134493948

  10. Stantel Jackson

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  11. How I Got My Ex Husband Back………..

    I am Shannon by name. Greetings to every one that is reading this testimony. I have been rejected by my husband after three(3) years of marriage just because another woman had a spell on him and he left me and the kid to suffer. one day when i was reading through the web, i saw a post on how this spell caster on this address Makospelltemple@yahoo.com , have help a woman to get back her husband and i gave him a reply to his address and he told me that a woman had a spell on my husband and he told me that he will help me and after 2 days that i will have my husband back. i believed him and today i am glad to let you all know that this spell caster have the power to bring lovers back. because i am now happy with my husband. Thanks for Dr.Mako. His email: Makospelltemple@yahoo.com OR. his phone number: +2348108737816.

  12. Is my gratitude and honor to say a big thanks to a man with truth and do as he promise please every one on this site should join me and thank Dr.voodoo for the glory and happiness he gave to me i break up with my husband 2 weeks back and I was down and do not know what to do until i saw a post about this spell caster Dr.voodoo who i explain my situation to,and them he said to me cry not my daughter for what you seek for is right here in my temple he gave me hope when i have no hope to my greatest notice,he did the spell for me and my husband was back 3 days after the spell please if you need any help my advise is for you all go to Dr.voodoo because he is the best of all contact him via; voodoospelltemple66@gmail.com

  13. I wake up everyday with a smile on my face and singing praises to this powerful spell caster called Dr,UZOYA who has done me a great favor by rescuing my relationship from break up. I used to think that i have a perfect relationship till when my lover started coming home late and everyday he gives me different excuses then i decided to keep a close eye on him then i discovers that he was having an affair with another girl. I was heart broken because i trusted him so much and knowing that he has a secret relationship, hurts me a lot.. But i thank all those who placed the contact information of Dr,UZOYA on the internet because through that i have been able to contact Dr,UZOYA and today my relationship has been restored with love and more romance than ever before. If you are in any kind of relationship or marriage stress i will do you a favor by dropping the contact information’s of Dr,UZOYA which are via email: driraborspellcaster@gmail.com Or Call +2348151098492.

  14. Billy Hill

    I have been looking for a love spell to bring back my wife after been separated for 2years, I have tried 3 different spell caster which I paid them money and non of them was able to get my wife back and this make me look frustrated until a friend of mine direct me to Dr. Trust who did what I called love spell I was in contact with her and after 48hours my wife call me and said she want us to be together and now we are back again with my 8 years old daughter and there is more romance in our relationship.please if any one need a real love spell or been scam before then Dr. Trust spell is the solution to your relationship problem you can reach him at (Ultimatespellcast@yahoo.com or ultimatespellcast@gmail.com call +2348156885231

  15. orna Harron

    My name is Lorna Harron, and I base in USA…My life is back!!! After 2 years of Broken marriage, my husband left me with two kids . I felt like my life was about to end i almost committed suicide, i was emotionally down for a very long time. Thanks to a spell caster called Dr Ogboni, which i met online. On one faithful day, as I was browsing through the internet,I came across allot of testimonies about this particular spell caster. Some people testified that he brought their Ex lover back, some testified that he restores womb,cure cancer,and other sickness, some testified that he can cast a spell to stop divorce and so on. i also come across one particular testimony,it was about a woman called Sonia,she testified about how he brought back her Ex lover in less than 2 days, and at the end of her testimony she dropped Dr ogboni’s e-mail address. After reading all these,I decided to give it a try. I contacted him via email and explained my problem to him. In just 48hours, my husband came back to me. We solved our issues, and we are even happier than before Dr Ogboni, is really a gifted man and i will not stop publishing him because he is a wonderful man… If you have a problem and you are looking for a real and genuine spell caster to solve all your problems for you. Try High ogbonispelltemple@hotmail.com anytime, he might be the answer to your problems. Here’s his contact: ogbonispelltemple@hotmail.com or call him :+2347054263874

  16. I am Shannon

    How I Got My Ex Husband Back………..

    I am Shannon by name. Greetings to every one that is reading this testimony. I have been rejected by my husband after three(3) years of marriage just because another woman had a spell on him and he left me and the kid to suffer. one day when i was reading through the web, i saw a post on how this spell caster on this address Makospelltemple@yahoo.com , have help a woman to get back her husband and i gave him a reply to his address and he told me that a woman had a spell on my husband and he told me that he will help me and after 2 days that i will have my husband back. i believed him and today i am glad to let you all know that this spell caster have the power to bring lovers back. because i am now happy with my husband. Thanks for Dr.Mako. His email: Makospelltemple@yahoo.com OR. his phone number: +2348108737816.

  17. How can I explain this to the world that there is a man called Dr uzoya who helped me bring back my ex lover and restored my womb..when all hope was lost..Me and my lover have been married for the past 5 years with no child we were living happily..on till one day that we have an understanding because i had not be able to have a child for him, so he decided to live me because of another women, i was so sad and frustrated and i could not even eat on till one day i was browsing through the internet where i saw a lady called Jessica testifying about spell caster call Dr uzoya who helped her brought back her husband back home, so i decided to take a try in contacting the spell caster Dr uzoya so i explain all my problem to Dr uzoya and he told me that i should not worry that he is going to help me solve my problem,that my lover will come back home to my greatest surprise in just 24 hours my husband start calling me and begging for forgiveness i was so surprise now we are back again as husband and wife,all my thanks goes to DR,UZOYA, worry no more cause DR,UZOYA is here to help u all,i will do u favor my drooping his email; driraborspellcaster@gmail.com OR his telephone number is +2348151098492

  18. HELLO:
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  19. imelda Daher

    Hey guys, my name is Imelda Daher from Philippines but reside in America i am very happy that i was able to be online last week when Janet posted on YouTube that she has finally gotten what she wanted for her marriage life after all the stress she went through trying to hack into our husbands phone herself.. So after that I decided to try and see if it’s gonna work or still the same thing I see online everyday so I contacted Michael as i was referred to by Janet to his email which I did and got his direct telephone number as well too and believe me he did a good job for me that I was shocked when I got the information I needed that my dear husband for 10 year of marriage has a baby mama in Sweden. thanks to Michael Lawson for this great job even if it’s gonna break my home its better than been fooled for the rest of my life. lawsonmichael33@yahoo.com by Janet and he did a good and fast job for me in less than 48hrs…he made available phone hack, chat histories, present chats and future chats…You can also contact him for all sorts of mobile hacking jobs like he told me. Good luck to everyone who really wanna work with him and put a stop to the entire nightmare.

  20. I am Johan Lisa from Philippines, i am 31 years of old
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  21. Trust me i was lucky to have gotten these details greatogudugu@gmail.com online which belong to a powerful spell caster called Dr.Ogudugu, My relationship was not in good mood because in recent times i kept seeing myself having problems with my lover. Things eventually got out of hand when my lover opened up to me that she has decided to move on because she has some one else in her life and that was how my relationship was broken until i saw this powerful spell caster contact information on the internet and he was able to restore my relationship by getting my lover back to me.

    HELP ME THANK DR.OGUDUGU

  22. My wife left me because i was always drinking and even when i did everything to bring her back, she refused and told me it was over between us. For months i was helpless and restless because i could not get my wife back so one days as i was doing some research on the internet, i saw many testimonies on how Dr UZOYA has helped people with his spell so i immediately contacted him email and today i am very glad that my wife came back to me within 48 hours just as Dr,UZOYA promised me and now i strongly believe that Dr UZOYA is a God on Earth. Do you need help contact him for help via email: [driraborspellcaster@gmail.com] OR call +2348151098492

  23. james william

    Hello! everyone out here,I am James William from Portland Oregon United state.It has been my desire to help people out with their problems no matter how little my contribution may be.

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    I loved a girl for more than 2 years and she told me she was going to marry me.But she would change her mind and tell me she didn’t love me anymore and was seeing a guy,which i found out.I begged her to accept me and also tried every means possible to make her know i can’t live without her because i really love her but she would pay deaf ears to me.

    We were working in the same company and each time i see her,i wish all this weren’t happening.This pain continued till a friend of mine led me to BABA ARUOSA whom he told me was very extremely powerful and has helped with a problem.

    Soon as i contacted him,i knew he was the exact answer to my solution because i felt his powers from his carefully selected words and calmness.I explain all that happened to me and he told me what to do.I did as i was instructed and never doubted him.To my greatest surprise what i felt was almost impossible within the twinkle of an eyes was over.

    She called me pleading for my forgiveness for how she has treated me and that she loves me so much and will never cheat on me again and will marry me.And from that moment till now all we’ve been experiencing is happiness in our relationship.We’ll be getting married soon……..lol

    I would advice anyone with problem to contact him via email : templeofsupernaturalcontact@gmail.com for his help.

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