International Society of Genetic Genealogy

Industry regulation and standards

In 2006 ISOGG co-founder and director Katherine Borges explained there was interest in testing as "people want to connect", and in 2010 she estimated one million people had taken DTC genetic genealogy tests since they became available in 2000.

In 2008 ISOGG supported the passing of the Genetic Information Nondiscrimination Act designed to prohibit the improper use of genetic information in health insurance and employment in the United States. In July 2010 Borges represented ISOGG at an FDA public meeting on oversight of laboratory developed tests, where she spoke against FDA regulation preventing consumer access to DTC testing:

The general view of ISOGG's members is that regulatory agencies should not stand between a consumer who wishes to collect data on their own genome, and labs that can provide that service. The genome of an individual consists fundamentally of information, and every individual in a free society has an absolute right to information about their own genome from a source of their choosing. Our membership base consists of many MDs, PhDs, and other specialists who are willing to volunteer their time to assist with the development of industry standards, good practices, and advisory panels. These concepts could be developed in collaboration with federal agencies like NIST and the FTC. And FDA's regulatory requirements for DTCs could be met with something as simple as full and adequate disclosures of the limitations of the tests by the testing companies. The result could be a happy medium to the benefit of consumers, the laboratories, the testing companies, the government and to taxpayers.

An article published in Genetics in Medicine in March 2012 provides an overview of the diverse array of tests and practices in the emerging DTC genetic genealogy industry. In the article, the authors highlight ISOGG's potential role in developing industry best practice guidelines and consumer guidance:

Based on these data and our previous research, we believe that specific, federal regulation of the DNA ancestry testing industry is not warranted or justifiable at this time ... While no ethical or industry standards have been published, some companies in the DNA ancestry industry are accredited by the American Association of Blood Banks and the Clinical Laboratory Improvement Amendments ... We call on the International Society of Genetic Genealogy (ISOGG) to take a leadership role in (i) articulating an ethical code to guide the practices of the industry it advocates and (ii) developing a consumer guide to provide prospective consumers of the DNA ancestry testing industry with a reliable means to compare products and companies for their varying consumer motivations and interests. Moreover, we reiterate the need for a roundtable discussion (as recommended by the American Society of Human Genetics white paper) to better engage the many parties with diverse needs for and interests in DNA ancestry inference and testing. Such a roundtable will be successful in developing best practice guidelines for DNA ancestry testing only if all parties approach the project in good faith.

The increasing affordability and popularity of DTC genetic genealogy testing has also raised ethical concerns about genealogists testing the DNA of others without consent. According to Borges, "People who realize the potential of DNA will go to great lengths to get it." The ISOGG Wiki contains a selection of external resources on ethics for genetic genealogists.

Y-STR nomenclature

ISOGG promotes the adoption of voluntary industry Y-STR nomenclature standards developed by NIST and published in the Journal of Genetic Genealogy in 2008. Borges explains ISOGG's rationale as follows:

As DNA testing for genetic genealogy purposes has become common and more people put their DNA profiles into online ancestry databases, the need for a universal format became apparent. This is a big benefit to consumers. They will definitely find more matches because of this new standard. Currently, consumers are often unaware they have to convert their results for use on different databases or are intimidated enough by the process that they don’t check a variety of databases. Also, some errors find their way into conversion tools. All these problems reduce chances of finding matches.

Citizen science

ISOGG members such as Leo Little, Roberta Estes, Rebekah Canada and Bonnie Schrack have been involved in important citizen science discoveries regarding human phylogeny and ethnic origins. The broader ISOGG membership participates in and supports the Genographic Project, a genetic anthropology study that uses crowdsourcing to facilitate new discoveries about human genetic history, and other genetic databases where broader and larger databases aid the identification of participants' ancestral origins.

Y chromosome phylogenetic tree

Since 2006 ISOGG has hosted the regularly updated online ISOGG Y-chromosome phylogenetic tree. ISOGG aims to keep the tree as up-to-date as possible, incorporating new SNPs which are being discovered frequently. The ISOGG tree has been described by academics as using the accepted nomenclature for human Y-chromosome DNA haplogroups and subclades in that it follows the Y Chromosome Consortium nomenclature as described in Karafet et al. 2008, and being "one of the most up-to-date, if not completely academically verified, phylogenetic trees of Y chromosome haplogroups". The ISOGG tree is widely cited in peer reviewed academic literature.