via biotech weblog
Preimplantation genetic diagnosis (PGD) has allowed couples to ensure the health of their child. But a screening technique known as karyomapping is going to improve prenatal diagnosis by replacing traditional PGD techniques. Karyomapping will allow doctors to detect both chromosomal abnormalities and single gene defects with a single test, making it a near-universal embryo screening. The technique should go into regular use by the end of the year.
The researchers based in the USA and the UK have been able to prove that the technique, known as genome-wide karyomapping, is capable of not only detecting diseases caused by a specific gene mutation, in this case cystic fibrosis, but that it was also capable of detecting aneuploidy (an abnormal number of any of the 23 pairs of chromosome) at the same time. This is the first time they have been able to demonstrate that the test can work in cells taken from embryos that have already been diagnosed with the cystic fibrosis gene mutation using conventional preimplantation genetic diagnosis (PGD).
In 2001, the Human Genome Project published a working draft of the human genome sequence, thus providing unprecedented advances in our knowledge of how a human works. The PGP makes sequencing personal. Just like the personal computer brought information technology to individuals, the PGP brings DNA sequencing to individuals.
So a while back I registered to the Personal Genome Project after they initally decoded the genome of their first ten participants and called for 10,000 volunteers to sign up for the potential to share their genome sequence and other personal information with the scientific community and the general public. (View example public profile pages here) To be considered, volunteers must pass an entrance exam to ensure a clear understanding of what it is they are getting themselves into and have an understanding of genomes and DNA and the bigger ethical picture of the Personal Genome Project.
I am currently working my way through the PGP study guide provided by the Alan and Priscilla Oppenheimer Foundation and hoping to fill in the gaps about the DNA and genome sequencing basics as well as use this as an insight into the PGP’s ethical considerations and risk legislation of sharing personal details to the public. I am not too sure if I really am aware of the implications and would say that this process is informing my ethical and moral position on predicitve gene testing and the PGP.
Question: Why do I have to take an exam to participate in the PGP?
Answer: The PGP takes informed consent very seriously and believes that an exam is the best way to ensure that you have the knowledge necessary to understand the benefits and risks associated with participating in the project.
For those interested in contributing their genetic material to the PGP check out their participation page
Could memories be stored by making modifications to your DNA? link
To remember a particular event, a specific sequence of neurons must fire at just the right time. For this to happen, neurons must be connected in a certain way by chemical junctions called synapses. But how they last over decades, given that proteins in the brain, including those that form synapses, are destroyed and replaced constantly, is a mystery. Now Courtney Miller and David Sweatt of the University of Alabama in Birmingham say that long-term memories may be preserved by a process called DNA methylation – the addition of chemical caps called methyl groups onto our DNA. With various experiments on mice using shock treatments, Miller and Sweatt “_think we’re seeing short-term memories forming in the hippocampus and slowly turning into long-term memories in the cortex,” says Miller, who presented the results last week at the Society for Neuroscience meeting in Washington DC.
Can experiences be passed on to offspring? link
What was your mother up to before you were even a twinkle in her eye? You might not think it matters, but it seems that in mice at least, mothers that receive mental training before they become pregnant can pass on its cognitive benefits to their young. Previous studies in both people and animals have shown that a mother’s experiences while pregnant can affect her offspring’s gene expression and health, even years later. However, it was not known if experiences prior to pregnancy had an effect. Larry Feig at Tufts University School of Medicine in Boston and his colleagues bred “knockout” mice that lacked a gene called Ras-GRF-2, causing them to have a memory defect. Normally, if mice in a cage receive a shock to their feet, they freeze in fear if they are then placed back into the same cage. In contrast, Ras-GRF2 knockout mice did not associate the cage with fear.
The current news topics relating to PGD and the baby born without the breast cancer gene reflects some of the work I generated during my RCA design interactions degree 2005-2007.
In particular the P-Evo Clinic:
The Personal Evolution Clinic was a scenario generated during the FORESIGHT internship I was involved in during 2006. The P-Evo Clinic is the ultimate preventative measure against our obesity epidemic. P-EVO is a development of the Family Planning Association. It offers services to would-be parents, through DNA and genomic screening, to predict genetic variants in the not-yet-conceived child. Parents can prepare for possible special requirements their unborn child may need in an obesogenic environment. The experience of a visit to the P-EVO clinic is a rare blend of religious vision, health spa and theatrical spectacle.
and The Gene Ceremony
The Gene Ceremony from the FATE INSTITUTE is a ritualistic experience that focuses on the implications of predictive gene testing on our future health susceptibility. A variety of foods act as DNA swabs to determine the likelihood of developing certain diseases or behavioural disorders. The ceremonial process ensures the experience of extracting the individuals genetic material is in line with the severity of the diagnostic information it reveals. The DNA material extracted from the jelly bone will be used by the FATE INSTITUTE to test each participant for their susceptibility to contracting Alzheimers or breast cancer in the future. The diagnosis is one part of a custom made course of future therapy provided at the holisitic institute of the Futures Association for Therapy and Entertainment.
PGD news links
The first baby in the UK tested before conception for a genetic form of breast cancer has been born. Doctors at University College London said the girl and her mother were doing well following the birth this week.The embryo was screened for the altered BRCA1 gene, which would have meant the girl had a 80% chance of developing breast cancer. link
Genetic tests that can detect a raised risk of breast, ovarian and prostate cancer are being offered for the first time to people without family histories of the diseases, The Times has learnt. The programme, run by University College London (UCL), paves the way for a new approach to preventive medicine involving widespread screening. It will also prompt greater demand for screening of embryos by parents who carry a defective gene and want to avoid passing it to their children. News of the programme came as Paul Serhal, medical director at University College Hospital’s Assisted Conception Unit, announced the birth of one of the world’s first babies selected to be free of a genetic risk of breast cancer. link
The birth of the first British baby genetically screened before conception to be free of a breast cancer gene was hailed yesterday as a breakthrough by doctors but raised fresh questions about the ethics of creating so-called designer babies. The baby girl grew from an embryo screened to ensure that it did not contain the faulty BRCA1 gene, which would have meant she had a 50%-85% of developing breast cancer. link
http://www.quantifiedself.com/ is a blog on self-tracking/personal data/life-logging projects that the participants are ‘socially prototyping’. Run by Kevin Kelly who also contributes to the Long Now Foudnation blog, it is an interesting illlustration of the increase in self-knowledge opportunities that digital and bio tech (eg Predictive Gene Testing)tools have offered as they have entered the mass market world. Its Show and Tell Meetups are based in San Francisco but perhaps this will migrate to the UK…watch this space.
GenePartner & ScientificMatch are DNA dating services that both offer the best taglines i have read in a longtime “Love is no coincidence” and “The Science of Love”. They equally use the same language and aesthetics you would find at most dating sites- is this a way to hook in their punters? Lull them into a sense of security?Obvious marketing techniques using getty imagery offering hideously unemphathetic service opportunties. I would love to do some ethnography on the implications on those using this site – journalists have already carried out their own research how about some ethnofiction? What are the possibilities of this service being really pushed to the extreme? Certanly a well trodden area in film and fiction as well as in Design Interactions at the RCA.
ScientificMatch outline the 6 key benefits to scientific matching your partner according to your DNA:
- Chances are increased that you’ll love the natural body fragrance of your matches.
- You have a greater chance of a more satisfying sex life.
- Women tend to enjoy a higher rate of orgasms with their partners.
- Women have a much lower chance of cheating in their exclusive relationships.
- Couples tend to have higher rates of fertility.
- All other things being equal, couples have a greater chance of having healthier children with more robust immune systems.
From New Scientist: Review of the Year
“This was the year genomes became commodities. High-profile people including Sergey Brin, co-founder of Google, and psychologist Steven Pinker had their genomes analysed. One genome-scanning company, 23andMe of Mountain View, California, gave out free test kits to world leaders at the World Economic Summit in Davos, Switzerland, and the media reported tales of celebrity “spit parties” where the glitterati meet to deliver saliva samples for analysis. But for as little as $399, you don’t have to be rich and famous to get your genome “done”.”
From New Scientist: DNA Dating
“Chances are good that you really enjoy Nic’s natural body fragrance, you enjoy a satisfying sex life with him, that the two of you would enjoy a high degree of fertility with each other and that you’d have healthy children together,” says Eric Holzle of ScientificMatch, although he says he wouldn’t match us through his dating site unless we were 100 per cent dissimilar. “There’s also about a 17 per cent chance that you would cheat on Nic at some point during your exclusive relationship together,” he adds. Unperturbed, I turn to GenePartner’s analysis: “This genetic combination is typical of very satisfying relationships,” the report says. “The chances are high that [your] intimacy won’t diminish over time.”
The Radio 4 “Analysis” programme aired recently has been discussing the ever cheaper commercial predictive gene testing and the implications it’s having on increasing our psychsomatic obsession with our health; creating dilemma and self obsession with health intervention and marginalization. Some great people sharing their pros and cons including Linda Avery from 23andMe & MP Dr Evan Harris who discusses the slow reactions of policy and government to biotech industry development and the possible exclusions enforced on by the insurance companies. – umm hello how long have we been talking about this?