Citizen science is a new term that has been in use since the 1990’s but has really only evolved to become popular in the last few years. It is used to describe systematic works of scientific research that are carried out, not within the formal academic or business research structures, but by amateur individuals or teams of private individuals operating in a new area of scientific research and within informal networks, increasingly internet-based.
In a sense all the major scientists before the 20th century were citizen scientists, men like Isaac Newton, Benjamin Franklin and Charles Darwin, for example, were all amateurs and self-funded. More recent examples of citizen science projects however include large scale astronomical observation projects and public nature and bird watching surveys.
One field of rapidly evolving citizen science participation and leadership is that of genetic genealogy. This research area was started in the early 2000’s with the emergence of several fledgling DNA testing companies offering DNA testing services to the general public. The first obvious application for these relatively affordable tests was in the area of genealogy, where it very quickly became apparent that DNA analysis, within and across families, was a very fruitful and effective way of bridging gaps in family history research where physical paper records no longer survived or indeed never existed.
The nature of DNA research in genealogy is that an individual’s results are only meaningful when compared to other possibly related people. This meant that it became an early necessity that DNA data publication- and sharing- mechanisms were clearly needed to be provided and available to all, and the internet was the obvious medium to use. Several commercial DNA and research organisations positioned themselves to provide public online DNA databases and this created the impetus for a massive expansion in private, citizen-science research.
The dramatic expansion in the development of new DNA tests by commercial companies in the last 10 years has in fact been largely been carried out in a synergistic fashion by the worldwide amateur genetic genealogy community.
The process of expanding the knowledge of the human DNA genetic tree has been a partnership between the commercial technology providers and the public buying their DNA tests and researching their own genetic ancestry.
The reality is also that testing companies cannot do research into the DNA tree on their own. They need as large and diverse a population as possible to use their tests in order to develop and validate them.
This research process also has had to have been an iterative one. Commercial DNA tests are developed based on the knowledge of the detailed structure of the human DNA genetic tree known at the time of test development. These tests are bought and used by the public and, through the testing, publication and analysis by genetic genealogists, new insights into further detail of the genetic tree are gained. This new knowledge is then incorporated into the succeeding new technology test, and so on. For example, if someone with an unknown DNA marker/mutation is not tested and that marker thus not identified, then the testing companies will not know that such a marker exists and not offer a commercial test for it!
For genetic genealogists researching their own position on the Y-chromosome genetic tree (Y-DNA research represents the most popular area of public attention) this has become an ongoing journey of discovery. The structure of the Y-chromosome DNA tree is proving to be highly complex and detailed and new and more powerful Y-DNA tests are still coming on to the market.
All of the DNA testing that is carried out by genetic genealogists is paid for out of their own pockets. The tests are provided at commercial, or slightly subsidised, prices by the testing companies and there is no public or commercial funding of these activities. Thus the whole funding of this substantial area of research is paid for by the participants.
So, whilst commercial companies provide the means whereby those people who are interested can test various elements of their own or family’s DNA, a large part of the analysis and dissemination of the results of such testing is carried out by informal networks of private individuals, the citizen scientists.
Today there are now some 6,000 separate Y-DNA research projects worldwide, all run by private individuals, the vast majority of whom had no prior technical expertise in DNA analysis and testing before they took on the project responsibility. A large number of these projects are focussed on just one family name or a group of related family names. Other projects just concentrate on specific areas of the Y-DNA tree and provide unique direction and impetus for more research in each particular area
The skills involved in managing and analysing the DNA data generated by these projects all have had to be developed by the project members as their projects have developed. However, the powerfully cooperative nature involved in these informal genetic genealogy networks means that there are many individuals that are generous in providing help and advice to anyone else who requests it.
All Individuals within the network possess their own personal blend of mathematical, analytical, computing and scientific skills. But inevitably some acknowledged experts with particular skills or knowledge emerge into view and become a resource for everyone else in the network. This is citizen science in action.
Manx Y-DNA Study
John Creer started the Manx Y-DNA study in August 2010. This 5-6 year long project is engaged in carrying out the Y-DNA analysis of the male members of the 120 original Manx families known to be living on the island in the 1500’s and before. It is intended that the results of this study will identify the early origins of these old Manx families before they settled on the IOM, their genetic connections with each other and families/tribes from neighbouring Ireland and Scotland and the likely timing of such connections. Early results from this work are already revealing new, and sometimes unexpected, insights into the history of these families in a way that no other scientific or scholarly approach could achieve.
Some 70% of the indigenous Manx population, as represented by these 120 families, have already been tested, either in part or fully. Another 2-3 years is required to complete recruitment and testing. This will also allow the study team time to take advantage of the rapid and dramatic improvements in testing methods and the new evolving knowledge of the detailed, low-level structures of the Y-DNA genetic tree.
So far nearly 170 men have been involved in this study and the majority of them have paid for their own DNA tests, so the private investment in this work amounts to around £25,000 so far. During the last three years a number of Manx cultural, political and business organisations have been approached to provide any level of financial or moral support for this unique Manx historical research, but so far nothing has been forthcoming. Thus, it is a telling commentary on our present times that such a ground-breaking and unique piece of research into Manx history is, so far, privately funded.
Manx Study Team Skills
John has a science degree and a wide-ranging business background in the pharmaceuticals industry, encompassing marketing, information management and IT project management roles. Since retirement he has been engaged in extensive Manx family history research and Y-DNA testing and analysis of his own Manx paternal family line. All of these skills and knowledge have now been put to further effective use as the citizen scientist leading this unique work.
Recently Mark Jost (Watterson) has joined the study as co-administrator. Mark is an American who became involved in genetic genealogy in order to try and learn more about his biological paternal line, after he was informed by his mother later in his adult life that he was a Non-Paternal Event (NPE) child of his biological mother and was paternal adopted by marriage prior to his birth. Mark approached the Manx Study as his Y-DNA profile was close to one of the Manx men already tested. With time and further testing, it has now become clear that Mark is the direct descendant of a Manx man who immigrated to the USA around 1700 and settled there. Mark has a business degree and runs his own computer business, and has utilized his computing and mathematical skills to become one of the leading citizen scientists in the field of genetic genealogy, accomplished in using sophisticated analysis techniques to determine the ages of populations of men, based on their Y-DNA profiles. Thus with his Manx ancestry Mark is ideally suited to playing a major role in the Manx Y-DNA study.
In due course, it may become appropriate to involve other people with other skills to play a role in the latter stages of analysis and interpretation of the results. This is typical however of how a citizen science-based project works, using informal knowledge networks of amateur experts bringing their own blend of personal abilities when required.
The Manx Y-DNA study (www.manxdna.co.uk) is a prime example of how the work of citizen scientists can undertake new and ground-breaking research outside the formal, institutionalised research structures.