Part IV: §1 Purpose and  Goals of the Organization, and Implementation

The association closely follows and exclusively pursues the goals of a non-profit in accordance with Section 501(c)(3) of the United States Internal Revenue Code:

1. The specific new and until now unmet scientific requirements and social needs that the not-for-profit Association is being established to address:

1. Technological advances in human genomics and genomic sequencing are generating a vast amount of genomic sequence data from individuals

2. Unlike the past, much of this genomic sequence data is being created outside traditional research frameworks

1. Sequencing is being purchased directly by consumers
2. Health insurance will begin to pay for genomic sequencing of all individuals as part of routine diagnostic screening.
3. Individuals who obtain genomic sequence data may want to share information to the general public and scientific community for the public benefit, on a timely basis, which relates to their:

1. ancestry
2. phenotypes
3. health

and they are unable to do so now.

3. While traditional research frameworks usually require public availability of the raw data upon which the research is based, the raw data has not been made available or easily accessible to other researchers and the general public in many research studies to date involving genomic sequencing. Additionally, all relevant information is often not being made available, or easily accessible from the supporting data.
4. Even when genomic research is made available publicly, there are often expensive fees to access the published studies and supplementary data.
5. The public release of human genomic data has often been unreasonably delayed because of competing academic and commercial interests.
6. The sharing of genomic data from individuals should require strict adherence to the international and legal standards of bioethics for human subjects research, and these requirements have not been universally observed by the genomics research community. The basic rights of human research subjects must be respected in all cases.
7. The lack of sharing of human genomic data has resulted in inaccuracies in forensic data, which creates serious problems with forensic identification, paternity testing, and the ability of adoptees to accurately identify their birth parents and ancestral origins.

2. The application of the principles of Open Science addresses many of these issues. Open Science is defined as making scientific research data publicly and freely available on a timely basis, to be used by both researchers and the general public without restrictions, and with appropriate means for crediting discoveries to the initial researchers, even before publication. This allows for the rapid collective utilization of research data by all, and also the ability to double check and reproduce any research results, thereby helping to eliminate errors and potential omissions. The non-restrictive nature and the rapid availability of research data turns the process of scientific discovery into a collective effort, which greatly accelerates the process..

3. The Association is being founded with the aim of applying the principles of Open Science to human genomics research. The coming availability of large amounts of human genomic sequence data from diverse sources, the need to share this data on a freely available and timely basis, the need to collectively validate it for accuracy and completeness, and the sheer complexity of the data which requires a collective effort to properly analyze and process it, means that an Open Science approach to human genomics research has become imperative to help correct the above listed problems in the current situation, and lay the groundwork for future discoveries in a field that is becoming critical to improving human health and the understanding of human history and origins.

4. The Association therefore has the following goals and will accomplish them as follows, in pursuance of the Association’s tax-exempt purpose:

8. Combine the elements of:

1. Open Science
2. Crowdsourcing (the collective funding of research)

to enhance basic research in human genomics and save lives and help communities by using open genomics to improve public health

9. Conduct scientific research in the public interest

1. Use public openly accessible human genomic sequences
2. Use sequencing specifically obtained for and/or funded by the Association
3. Associate genomic sequences with all other relevant information, including:

1. ancestry
2. history
3. historical linguistics
4. archaeology
5. anthropology
6. genealogy
7. population genetics
8. paleoclimatology
9. forensics
10. environmental conditions
11. diet and nutrition
12. microbiology (microbiome and pathogens)
13. epidemiology
14. pharmacology
15. phenotypes
16. medical information

10. Develop and make available free data analysis tools and websites

1. Use open source genomics software, if possible
2. Develop new analysis tools if the currently available software does not exist
3. Create online systems to analyze and present freely accessible human genomic data to the scientific community and the interested public

11. Help internationally publicize the results of research conducted by the Association through:

1. Research papers in scientific publications
2. Online websites
3. Other media accessible to the interested public
4. Using local languages as appropriate
5. Making the results available on a timely basis, with rapid dissemination of results

12. Provide a means for others to sponsor through crowdsource-funded whole genome sequencing for research in the public interest, including for people from underserved communities.

1. Encourage crowdsourced sample collection, and crowdsourced donations of scientific results from genomic sequencing to be submitted to freely available unrestricted public databases including the International Nucleotide Sequence Database (which includes the European Nucleotide Archive and NCBI Genbank)
2. Provide a means for laypersons interested in citizen science to participate in the scientific research process of the study of human genomics, by encouraging their participation in research alongside academics and professional researchers. This will provide a way to rapidly disseminate their ideas and discoveries, and have them published in a timely manner for the interested public to use without restrictions, while allowing proper credit for discoveries to be given to the appropriate people.
3. Ensure adherence to the accepted standards of bioethics in human subjects research while allowing laypeople involved in citizen science to contribute their knowledge, expertise, volunteer labor, resources, and their discoveries to the scientific community and the interested public at large, and for the public good.

13. Advocate for the right of people with genetic disabilities to share their genomic sequences and associated personal health and ancestry data with researchers and the interested public, so they can share their results without fear of unneeded adverse consequences such as genetic discrimination.

14. Derive Reconstructed Ancestral Human Sequences by determining the ancestral and derived states of each nucleotide in the human genome, thereby making it possible to:

1. Unambiguously identify mutations including:

1. Pathogenic mutations
2. Adaptations

2. Assemble these Reconstructed Ancestral Sequences into a chronological series, to create phylogenetic trees
3. Derive accurate mutation rates, which can be used to develop a DNA molecular clock

15. Develop phylogenies of all human non-recombining haploid DNA segments across the human genomes.

1. The phylogenies will be rooted in one or more Human Ancestral Reference Sequences shared by all living humans on Earth
2. The phylogenetic trees will include all publicly available sequences, including mutations found in only one individual. There is no way of knowing whether a given mutation is shared or truly unique to a single person, and any single mutation in combination with others may prove to be critical to scientific research.

16. Create population-specific genetic linkage maps, which show the likelihood of any single DNA segment recombining in each generation. Accurate linkage maps facilitate:

1. Admixture analysis, the study of the historical mixing of ancestral populations.
2. The calculation of the degree of relationship between any two individuals using autosomal DNA (Chromosomes 1-22 as opposed to the uniparental markers, the Y chromosome and mitochondrial DNA).

17. Use human genomic phylogenies and open, freely-accessible, public human genomic data as a tool to help advance research in:

1. Population genetics
2. Ancestry of individuals (including adoptees)
3. Medical research
4. Forensics

18. Use human genomic data to research human origins:

1. Demonstrate the fundamental unity of all mankind
2. Discover human history, and ancestry using archaeogenetics.

19. Refute scientific inaccuracies that use genomic data to support:

1. Genetic determinism, where environment and human ability play no role
2. Unscientific myths that divide people, such as racism, fundamentalist beliefs about human and ethnic origins, and ethnocentrism

20. Oppose unfair commercial exploitation of closed (proprietary) genomic results for private profit, which inhibits progress in scientific research.

1. While human genomic sequences found in nature cannot be patented or copyrighted, it is still unclear whether associated relevant data such as reconstructed ancestral sequences, phylogenies, and ancestry information can be used in a completely unrestricted way.
2. Ensure that legal and ethical standards of non-conflict of interest in public and non-profit scientific research are adhered to and enforced.

21. Advocate for the strict adherence to internationally accepted standards of bioethics in human subjects genomic research:

1. Subjects must give fully informed consent
2. Subjects have a right to appeal and redress against ethical violations
3. Researchers must disclose any potential financial and legal conflicts of interest
4. Study results must not be used for promotion of proprietary commercial genetic tests, or commercial advertising by sponsors
5. Subjects and their communities must not be subject to undue influence or coercion to participate in studies
6. Researchers must conduct their studies according to the principle of intellectual integrity. There must be full disclosure of the all the relevant raw data upon which the study conclusions are based, in an unrestricted way, and available to the interested general public. Publication of studies must not be unreasonably delayed without sufficient cause. All the available data should be included, and discussed in the study, not withheld or obscured to support predetermined conclusions.
7. As part of the principle of Respect for Persons in human subjects research, full disclosure must be given to subjects about any potential political, sectarian, or social conflicts of interests generated by the uses to which the authors and their sponsors put the results, such as changing immigration, citizenship, land rights, or personal status (e.g. marriage) policies in areas of the world where these are tied to one's ethnic or sectarian origin. This will help avoid biocolonialism and attempts to use scientific research as justifications for discrimination against ethnic minorities or other vulnerable populations.

22. Promote the idea of routine phased whole genome sequencing, and help make it available to the general public:

1. Provided at the lowest cost possible

1. To be conducted whenever possible on a non-profit basis
2. With minimal operating overhead

2. Advocate for the right of all individuals to receive routine genomic sequencing as part of a general baseline health screening
3. Make certain that individuals have unrestricted access to their own complete genomic sequencing data
4. Individuals should have the right to make their genomic sequences and all other associated relevant information available to the scientific community and the interested public on a timely basis, without restrictions

23. Make human genomic sequences publicly available and accessible for scientific research by submitting them to the International Nucleotide Sequence Database (which includes the European Nucleotide Archive and NCBI Genbank), and encourage others to follow suit. The International Nucleotide Sequence Database is a consortium of the EU, US and Japanese governments designed to store genomic sequences fulfilling the following requirements, which uniquely meet the Open Science goals of the Association:

5. A universal repository for all genomic sequence data
6. Not controlled by any one commercial entity or country
7. Submissions of genomic sequences are accepted from all sources and are permanently stored without charge
8. All data is freely available to the public and the research community, without fees or copyright restrictions

24. Promote the idea that individuals who were already tested should make their existing genomic sequence data available in the International Nucleotide Sequence Database (INSD), and provide a means for the general public, customers of direct to consumer DNA testing services, and individuals who have had subsidized medical sequencing, to submit their sequences to the INSD.

1. Associate different data sets and test results from the same individual under a single entry or code for that individual
2. Optionally group results from related individuals under a single entry for the pedigree
3. Provide a free means for individuals to optionally associate information about their ancestry, phenotype and health information with their genomic sequences, while providing a means for individuals to achieve the level of privacy and anonymity that they wish to maintain

25. Utilize a variety of genomic sequencing technologies to obtain more accurate results, through the comparative sequencing of samples provided by the Association.

1. Genomic sequencing using a variety of different innovative technologies will help determine accurate phased genomic sequences across entire chromosomes, including regions that are hard to uniquely align today,  such as copy-number variations, palindromic regions, interrupts and regions that are homologous with other chromosomes
2. Associate the sequencing results obtained from a single biological source individual and make these sequences public in the International Nucleotide Sequence Database. This will allow the interested public to directly compare results for the same individual. Current sequencing technologies have different strengths and weaknesses, and different error rates. An additive comparison of the results of different technologies  for the same individual will leverage the advantages of each, and the additive result will be much more accurate than the individual results we see today.