What does mega-search engine Google and mega-genome services company 23andMe have in common?

Two actually, and maybe more…

First – investments and second, spouses.

This week, Google invested $2.6 million in 23andMe on top of the $7 million invested so far. No surprise there, since Google’s co-founder Sergey Bring is the spouse of 23andMe’s co-founder Anne Wojcicki. But as CNN remarked, it’s one the perks of marrying Google.

In another news, biotech giant Illumina has launched a personal genome sequencing service. That is, you can have your entire genome sequenced – all 3 billion DNA - for a hefty price of $48,000. Unlike 23andMe and other genome-testing services where only genotypes are provided, Illumina will provide your entire DNA sequence.

But you need a prescription and a physician’s OK to get the ball rolling. AND, you still need one of the other personal genomics companies such as 23andMe to interpret the sequence and tell you your risks.

image: Newscom

For the first time, US researchers have decoded all the genes of a woman who died of myeloid leukemia, and they found 10 mutations that contributed to the development of her cancer.

This finding is significant on several fronts. It’s the first time that a cancer genome has been sequenced. The scientists took samples of both cancer and normal skin cells from the same woman, and sequenced the DNA on both samples. Previous to this, the focus was on select regions of the genome, called candidate regions, suspected of carrying genes that cause or contribute to cancer.

The study also found that 8 of the 10 mutations have never been suspected as contributing to the disease. The researchers found them on every cancer cell and none in the normal samples, which suggests that these mutations play as-yet unknown roles in skin cancer.

The research is focused on skin cancer, but scientists are enthusiastic about finding similar or the same genes in other types of cancers.

At her request, the woman’s identity is kept secret, but this is also the first time that a woman’s genome has been sequenced. Previous to her, only James Watson and Craig Venter’s DNA have been decoded. 

(Image credit: medicineworld.org) 

This week b5 media’s Health and Wellness channel is focusing on celebrities health.  Our focus is not on ‘tittle tattle’  and hot gossip about Angelina, Brad or ’Tomkat’ but rather a serious look at health issues that high profile individuals share with all of us. 

In the genetics world, our ‘celebrities’ are the likes of Craig Venter and James Watson - pioneering geneticists but basking in the eye of the media.

The race to sequence genomes has resulted in some major PR, particularly for Craig and James. 454 is sequencing James Watson’s genome and Craig has announced some of his results in PLoS.  TV star Larry King, cosmologist Stephen Hawking, Google co-founder Larry Page, Microsoft co-founder Paul Allen and junk bond trader Michael Milken have all paid a vast sum of money to have their genomes sequenced.

However, this is causing a degree of discomfort within the scientific community.  They are worried that only the rich will benefit and it’s sending out the wrong messages to the public.

I have a different perspective.  Research has to start somewhere.  The very rich have always been the first to buy pioneering technology whether it’s a car, the latest computer or mobile phone.  Their money will assist  in further driving down the cost of the technology to such a price that will be affordable to us mere mortals.

Elaine Warburton  www.geneticsandhealth.com

At last one for the girls!

 … Geneticists at Leiden University Medical Centre (LUMC) are the first to determine the DNA sequence of a woman. She is also the first European whose DNA sequence has been determined

The DNA is that of Dutch scientist Dr Marjolein Kriek, a clinical geneticist at LUMC. “If anyone could properly consider the ramifications of knowing his or her sequence, it is a clinical geneticist,”says professor Gert-Jan B van Ommen, leader of the LUMC team. 

Now we have  a new ‘Watson and Kriek’ to compare genetic diversity!

Elaine Warburton  www.geneticsandhealth.com

It’s been quite a month for genetics and ethics!  There has been much commentary on GINA (Genetic Information Non discrimination Act) and now an influential academic group have developed an ethical framework of recommendations to encourage individuals to join whole-genome association studies.

According to a large group of genomics scholars, researchers, ethicists, and policy designers and watchers, in order to live up to its potential, whole-genome research in the future should be built upon some ETHICAL foundation that will give people the confidence and trust they will need in order to become volunteers.

The group of experts published a statement of consensus this week in PLoS Biology that is intended to serve as practical guidance for scientists involved in whole-genome association research and for ethics boards. The statement proposes eight recommendations aimed at creating more secure and consensual practices for research institutions involved in whole-genome association studies.

In summary, they are:

1. Detailed consent from volunteers for future use of their genetic material that includes as much detail as possible, including information about the sampling and sequencing process, associated commercialization activities, possible risks, and the nature of likely future research initiatives. Option for volunteers to re-consent for specific projects.

2. The right to withdraw consent, including the destruction of tissue samples and written information, must, so far as possible, be respected and be part of the whole-genome research ethics process. In addition, the fact that this right may be severely limited once data are disseminated must be clearly communicated as part of the initial informed consent process.

3. The design of personal genome projects and ethics review should explicitly consider how the ability to withdraw from subsequent use is enhanced or diminished by how data and samples are collected, stored, and disseminated. The appropriate balance will need to be considered for each project on a case-by-case basis.

4. Personal genome research projects should have an established process, approved by a research ethics review entity, for evaluating whether findings (incidental or otherwise) meet criteria for offering to individual participants. This process should be highlighted in the initial consent and should acknowledge the participants’ right not to know certain results.

5. The process of identifying and disclosing research results should involve professionals with the appropriate expertise required to provide the participant with sufficient interpretive information.

6. Data release policies must be designed to appropriately balance the benefits and requirements of access against the privacy interests of research participants. The rationale for the proposed data release policy needs to be clearly explained, justified as necessary for the goals of research, and deemed acceptable by the relevant ethics review entity.

7. The implications of data release must be adequately disclosed to the potential participants in the consent process. This disclosure should include a discussion of the likely finality of the release process and the implications that this may have on privacy and the future right to withdraw.

8. As part of the consent and ethics review process, the issues associated with family members and relevant groups and populations should be considered (this may, for example, involve encouraging/requiring discussions with family members).

For further information, please click on the following link:

http://biology.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pbio.0060073

Elaine Warburton  www.geneticsandhealth.com

(Image courtesy of www.ustc.edu.cn) 

Latest news from the GenomeWeb:

“The Beijing Genomics Institute at Shenzhen announced that it is launching an International Giant Panda Genome Project.

Scientists at BGI-Shenzhen plan to sequence a panda to be selected from the Chengdu and Wolong breeding centers using high-throughput sequencing technology. They hope to have a draft genome sequence assembled within six months. The giant panda genome is roughly the same size as the human genome and contains some 20,000 to 30,000 genes.

The project is intended to provide new insights into panda ecology and evolution. This could shed light on the panda’s history, migration, and relationships to other animals, as well as information about panda fitness and diseases that may help protect the endangered animals. Eventually, the team plans to do panda transcriptome studies and studies on genetic variations in the panda population.

“It is the first genome project to be undertaken specifically to gather information that will contribute to conservation efforts for an endangered species,”Oliver Ryder, an endangered species researcher at the San Diego Zoo who participated in a Panda Genome workshop held in Shenzhen earlier this year, said in a statement. “The giant panda is a global conservation symbol and deserving of such an effort.” “

Elaine Warburton  www.geneticsandhealth.com

The Hebrew University of Jerusalem scientists and others have revealed for the first time the electronic structure of single DNA molecules.  In their work, the researchers were able to decode the electronic structure of DNA and to understand how the electrons distribute into the various parts of the double helix, a result that has been pursued by scientists for many years, but was previously hindered by technical problems.

The knowledge that has been acquired in this project may also be relevant for current attempts to develop new sophisticated, reliable, faster and cheaper ways to decode the sequence of human DNA.

Finding the electronic structure of DNA was made possible by a collaboration between experimental and theoretical scientists who worked with long and homogeneous DNA molecules at minus 195 degrees Celsius, using a scanning tunneling microscope (STM) to measure the current that passes across a molecule deposited on a gold substrate. Then, by means of theoretical calculations based on the solution of quantum equations, the electronic structure of DNA corresponding to the measured current was obtained.

The knowledge of the electronic properties of DNA is an important issue in many scientific areas from biochemistry to nanotechnology.  For example, in the study of DNA damage by ultraviolet radiation, UV radiation may cause the generation of free radicals and genetic mutations. In those cases, DNA repair occurs spontaneously via an electronic charge transfer along the DNA helix that restores the damaged molecular bonds.

Elaine Warburton  www.geneticsandhealth.com