It is now widely recognized that gathering genetics information raises significant scientific, ethical, legal, and social issues.

Due to rapid advances in the new technologies of molecular genetics, we are faced today with an unprecedented explosion of human genetics information obtained by different research teams for different purposes associated with different kinds of information.

If these concerns are not addressed effectively:

	The rights of human subjects and their best interests & welfare might be inadvertently compromised.
	There may develop conflicts of interest-ethical, legal, financial, and other-that should and could be avoided.
	Investigators may make poorly-informed assessments of how human genetic diversity co-varies with disease, ancestry, social practices, etc.

In short, there is a urgent need to resolve how these data are to be used by individuals, health-care providers, commercial enterprises, government agencies, etc.

During the 1990s, concerned individuals and groups, the popular press, and members of the scientific community have focused a great deal of attention on ethical and legal issues raised by the use of human subjects in genetics research. Doubts were voiced from many directions questioning the ethical and scientific appropriateness of a human genome diversity project (HGDP) [note 1] to characterize our global genetic diversity as proposed by L. L. Cavalli-Sforza and others at the start of that decade.

Late in 1997, the National Research Council (NRC) issued its own long-awaited report on the proposed HGDP.[2] This document reviewed several major issues:

	The scientific & medical value of research on human genetic variation
	Sampling procedures
	Sample collection & data management
	Human rights & the use of human subjects[3]
	Organizational & other issues

The NRC report also offered a major policy recommendation (page 38): researchers interested in human genetic diversity should adopt a population-based sampling design (labeled Strategy III) asking investigators to record only information on (1) the location where a human genetic sample is obtained; (2) the "self-reported" ethnicity of the individual being sampled; and (3) his or her primary language, sex, age, and parental birthplaces. The report suggested that no personal identifiers should be obtained at the time of sampling so that "neither the information nor the samples could be linked to specific persons" (page 3).[4]

The report, however, noted that this recommended strategy has several limitations, including:

	Samples collected using this recommended strategy would not be robust enough for medical and disease-related studies addressing disease causation directly (page 31).[5]
	It would only be possible to look for genotype-disease associations even if biomedically relevant information on individually identifiable phenotypes were to be gathered (what the report labels sampling design Strategy IV).
	"Hidden or unknown heterogeneity in the populations sampled could easily lead to false conclusions, and additional sampling (often the gathering of pedigree data) would be needed to confirm the results obtained" (page 4).
	The report observes that a more advanced research design (designated Strategy V) sampling "families or pedigreed persons in a population" would:
	Result in more definitive phenotypic studies that might be able to detect "markers close enough to disease loci to produce a within-family association."
	Greatly increase the biomedical utility of a human genome sample collection by using family data that would also allow the construction of haplotypes with more certainty.
	Be more expensive than those done using the recommended Strategy III research design.[6]

None of the five research strategies defined in the NRC report may be robust enough for interdisciplinary research examining questions in health, human genetics, evolutionary biology, anthropology, and human geography that could be explored if information on human genetic diversity around the world could be readily, accurately, and reliably matched with medical, epidemiological, environmental, social, and other kinds of data on environments, lifestyles, history, social relationships, etc.[7]

[More history here]

Notes:

1. Cavalli-Sforza, L. L., A. C. Wilson, C. R. Cantor, R. M. Cook-Deegan, and M. C. King. 1991. "Call for a worldwide survey of human genetic diversity: a vanishing opportunity for the human genome project." Genomics 11: 490-491.

2. Evaluating Human Genetic Diversity, National Academy Press, Washington, D.C., 1997; hereafter "the NRC report."

3. For example, "One of the concerns expressed by public reaction to the call for genetic diversity research is that such research could inadvertently exacerbate, rather than lessen, the habit of assigning people to socially defined ethnic categories for political and economic purposes" (NRC report, page 62).

4. The NRC report notes, however, that "many human populations have strong geographic affinities, so in practice the population source of the sample could often be inferred with little effort" (page 32) and "that the inclusion of parental birthplaces with the other information . . . could, in some instances, inadvertently reveal a particular person's identity" (page 34).

5. The NRC reports concludes: "although biomedical applications are clearly important ultimate goals of population-based surveys of genomic variability, it appears more realistic at this stage of planning for biomedical investigations to be viewed as secondary targets. The committee [i.e., the authors of the NRC report] appreciates that this view will be controversial and that it could have some negative consequences such as a lesser willingness to participate in a study that has no immediate health benefits for potential subjects" (page 24).

6. Unlike Strategy III studies, those using Strategy IV would be designed to obtain "biomedically relevant information on individually identifiable phenotypes, particularly disease phenotypes"; unlike Strategy IV studies, those done using Strategy V would focus specifically on "families or pedigreed persons in a population instead of persons of unknown relationship" to obtain this biomedically "enhanced data set" (page 31).

7. The NRC report offers the following advice: "Accurate identification of population units for sampling purposes requires extensive knowledge of the social, political, and linguistic composition of the region to be sampled. Published ethnographic studies can provide some of this knowledge, as can anthropologists who work with the peoples. If this information is not available, researchers should study the local situation in consultation with local leaders, experts, and other researchers before designing the sampling strategy" (pages 7, 69).