Shots of Science: genes and open health data

Icelanders DNA sequenced

Researchers have analysed the DNA data of the whole island of Iceland. The Researchers sequenced the whole genomes of 2,636 Icelanders and carried out less detailed genotyping for SNPs (DNA sequence variation occurring commonly within a population) on 104,220 individuals, one third of the population of Iceland. Iceland’s population is 325,000 and due to its geographical location has been relatively genetically isolated for many centuries. The DNA sequences can be matched with Iceland’s comprehensive genealogical data to predict genetic information for the population of the entire island. The research showed an “excess of homozygosity”, where alleles for many traits were identical on both chromosomes rather than two different dominant and recessive traits being present. The researchers also found rare variants for protein coding. The results are bad news for the hearts and livers of Icelanders as they showed a genetic predisposition for atrial fibrilation and liver disease. The combination of family tree histories and genetic information could allow islanders to identify certain risks such as the BRCA2 gene in females which results in high rates of ovarian and breast cancer in carriers. The research also reveals interesting insights into the development of population variations. However it presents many difficulties for the people of Iceland. Two thirds of the populations’ gene sequence can be predicted with a high level of accuracy due to this research and public family tree information but they weren’t personally sampled during this study. The ethics is complicated. Some Icelandic doctors feel it is their duty to use this information, such as the BRCA2 gene in certain family trees to warn those who are risk. It could lead to a wide scale Angelina Jolie effect in Iceland and emotional distress to individuals who never asked to be sequenced.

If you were (or are) an Icelander would you want to know? Leave your comments below or tweet us @ThisHeadStuff #genome

Open Humans

Open Humans has launched. In the past few weeks Headstuff has been examining aspects of life logging and data sharing. Now a new online platform is inviting Americans to share their health data with a clear and transparent policy of no privacy guaranteed. Open Humans is starting with three research studies under the umbrella of public data sharing that people can participate in: American Gut, GoViral and the Harvard Personal Genome Project. With the public debate over data privacy at a peak Open Humans’ approach is an interesting one. The website clearly warns potential participants that the data they provide in the form of patient history and bio samples can be highly identifiable. However, they say that many members proudly attach their name to their account rather than stay anonymous as a statement that they are willing to support science research. Furthermore, participants will have access to their own raw data. With no promises of data privacy and participants fully aware of this before signing up many of the issues being discussed in privacy debates are nullified. There is the risk of insurance providers using your data to increase premiums or deny insurance however and in America this is a particularly problematic area in the absence of universal health care. Could Open Humans be a sign that the tide on privacy is turning? Health care professionals rarely share raw data with their patients and there is an increasing interest in self-quantifying as part of the life logging trend. Open Humans provide a service that is otherwise denied and some people are willing to trade their privacy for that information. The major upside to this type of mass research is enormous. With the potential for large sample sizes and a more diverse range of participants massive insights into the wider health of America can be gleaned at a rapid pace. Normally in research trials participants’ data is solely licensed for that trial alone; If a participant’s genome was sequenced for a study on breast cancer none of the potentially useful information found on, for example, their genetic predisposition to liver disease can be shared with researchers looking at liver disease. Because research tends to focus on one type of problem at a time there is rarely a chance to correlate between diseases and the pace of progress is slow. Open Humans new approach to open health data could be the answer for a databank of gene information that researchers in many areas could use, compare and contrast. It has the potential to advance knowledge at a much greater speed.

Transforming one breast cancer cell into another

Australian scientists may have an alternative solution for difficult cancer cells. They have taken a creative approach to the problem of creating drugs for hard-to-treat cancer. They say don’t try! Instead transform these problematic cells into more treatable cancer cells . Sounds odd to turn one type of cancer into another but it in this case it could save lives. The research shows that triple negative breast cancer is a cancer of breast stem cells rather than breast tissue cells. This cancer is harder to treat because it doesn’t rely on oestrogen, progesterone or the protein HER2 to grow and stem cells are adaptable and evade treatment. Breast cancers which do need oestrogen, progesterone or HER2 can be treated by inhibiting their production. The discovery is the result of noting that women with triple negative breast cancer produce more of a protein called ID4 which is made by the stem cells. Because stem cells are adaptable, when the researchers inhibited the ID4 gene it caused the cell to switch off some of the genes which caused the tumours to grow and switched on some other cancer related genes including those which need oestrogen to grow. Fortunately oestrogen reliant cancer cells create the type of cancer that we are much more successful at treating.