Archive for the 'ELSI' Category

Ethics and Genomic Research: ‘Genomethics’

31/01/2012
Categories: ELSI and Guest Posts
Written by Katherine Morley and Guest Author

Dr Anna Middleton is an Ethics Researcher and Registered Genetic Counsellor, based at the Wellcome Trust Sanger Institute. She leads the ethics component of the Deciphering Developmental Disorders study, a collaborative project involving WTSI and the 23 National Health Service Regional Clinical Genetics Services in the UK. This project involves searching for the genetic cause of developmental disorders, using array-CGH, SNP genotyping and exome sequencing, in ~12,000 children in the UK who currently have no genetic diagnosis.

One of the issues raised by this, and many other research projects, is what should happen to ‘incidental’ findings, i.e. potentially interesting results from genomic analyses that are not directly related to the condition under study.  Here Anna discusses the research she is conducting on this topic as part of the DDD study, and provides a link to the DDD Genomethics survey where you can share your own views (I should also disclose here that both Caroline and I also work on the DDD study).[KIM]

Whole genome studies have the ability to produce enormous volumes of valuable data for individuals who take part in research. However, as a consequence of analysing all 20,000+ genes, whole genome studies unavoidably involve the discovery of health related information that may have actual clinical significance for the research participant.  Some of this will be considered a ‘pertinent finding’, i.e. directly related to the phenotype under study (e.g. the child’s developmental disorder); some of this will be considered an ‘incidental or secondary finding’ in that it is not directly linked to the phenotype under study or the research question that the genomic researchers are trying to answer.

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Debating the future of genome sequencing in medicine

21/10/2011
Categories: ELSI
Written by Luke Jostins

This is a cross-post from my more technical blog, Genetic Inference. However, I thought that it might be of interest to non-specialists who like to keep up with the ongoing debates about the role of genomics in health and medicine.

Last week many of us at Genomes Unzipped (along with over 7000 other geneticists) were at the International Congress of Human Genetics in Montreal. A highlight of the meeting was a large debate entitled “Current and Emerging Sequencing Technologies: Changing the Practice of Medical Genetics”. The panel and the audience were both packed with research scientists, clinicians and industry researchers (you can see the full list of panel participants here), and as you’d expect the discussion was at times pretty lively.

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 concepts in genetics.

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Why public genomics is not a purely personal decision

13/10/2010
Categories: ELSI and Informed Consent
Written by Dan Vorhaus

I knew I wanted to be a part of Genomes Unzipped from the very first day Daniel told me about the project. But the decision to actually participate was more complicated.

I’ve spent a lot of time over the past five years thinking about the benefits and risks of personal and public genomics. By sheer good luck I became an advisor to the Personal Genome Project (PGP) in its early days, long before PGP-1 (George Church) was joined by so many others (the arrival of the PGP-1K was announced yesterday) interested in exploring public genomics. As a result of that connection, I have been able to continue to work with the PGP, exploring the issues raised by public genomics research as they arose, often for the first time, in connection with that project. And as part of my day job I edit an online publication (the Genomics Law Report) and advise clients—both focused on issues arising at the intersection of personalized medicine, genomics and the law.

As a result of all of this time spent thinking and writing about personal and public genomics, I’ve come to know a few things. I know that I believe the benefits of public genomics, for both science and society, to outweigh the risks. I also know that I might be wrong about that, but I know that I’m comfortable accepting that risk, too. I know that I want to support personal and public genomics projects. Most of all, I know the decision to join a project like Genomes Unzipped is not mine alone.

Before agreeing to participate in Genomes Unzipped, I knew I would need to seek—and receive—permission from my family. There was no legal requirement that I obtain their consent before joining the Genomes Unzipped team and, ultimately, publishing my genetic data for the world to review. But that did nothing to change the strong personal obligation I felt to seek my family’s consent.

While my genetic information is personal to me, it could also have something important to say about my family members. The strong likelihood was that it would not, particularly once you diluted the limited predictive value of most genetic markers with a hefty dose of uncertain utility and a large helping of additional uncertainty thanks to the fact that I share, on average, only 50% of my genome with each of my family members. But while I could calculate that risk as small, and accept it for myself, I could not unilaterally accept it on behalf of each member of my family.

Knowing that, I set out to talk to my family about Genomes Unzipped and my interest in participating in the project, and to learn whether that was a decision they would each be willing to support. Spoiler alert: there is no surprise ending here. You would not be reading this post if any member of my family had not fully supported my decision to join Genomes Unzipped.

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