Between Zeus and the Salmon The Biodemography of Longevity (1997) / Chapter Skim
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12 The Potential of Population Surveys for Genetic Studies
12 The Potential of Population Surveys for Genetic Studies
Pages 234-244
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From page 234... ...
The methodologic challenges for marrying large population surveys to genetic hypotheses are complex and not easily solved, in part because each survey was thoroughly rationalized, scrutinized, and funded to address a set of important nongenetic scientific questions relating to general health, social behavior, and economics. However, given the substantial costs of these population surveys and the restricted availability of research funds, it is essential to at least explore possible intersections of genetic inquiry with existing and planned field studies.
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From page 235... ...
the original investigators would almost always need to be contacted to explore further participant contact and any possibility of specimen collection, including the determination of ethical and administrative procedures. In general, this suggests that retrospective use of these surveys, particularly the inactive ones, would require additional resources and energy to suit them for genetic study, but nonetheless, a reasonable potential remains for exploitation of, at least, ongoing or planned surveys.
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From page 236... ...
Luxembourg Income Study (Multiple databases) Second Malaysian Family Life Survey (N~ 6,000)
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From page 237... ...
However, as noted below, there are other potential genetically related applications of population studies. To find potential applications of existing population studies for addressing genetic hypotheses, it is instructive to indicate some general categories of applications, temporarily leaving aside study methods and logistical issues.
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From page 238... ...
frequencies markedly different from more customary sources, such as volunteer populations, clinical populations, blood donors, and newborn screening samples, this use is probably one of the best applications for preexisting and planned general population samples. In addition to their specific sample representativeness, the NIA populations may be attractive because of their broad national coverage, multinational representation, and in some instances access to special populations such as the institutionalized elderly or the oldest old.
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From page 239... ...
A major hope has been to use population studies to explore the role of various genetic determinations in disease risk for individuals. Earlier attempts at using measurable phenotypes (physical manifestations of gene function such as blood type or eye color)
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From page 240... ...
for study from clinical or volunteer populations may obscure some potential associations because of chance clustering of nongenetically related common diseases in these families, possibly leading to spurious negative findings. Sampling families from existing, defined general population surveys, particularly those with information on health and disease history, might be an effective way of unbiased pedigree sampling.
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From page 241... ...
Surgical specimens. A common technique in molecular epidemiology, particularly in the study of cancer occurrence and prognosis, is to acquire stored tissue specimens obtained at surgery, on which many genetic markers can be determined.
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From page 242... ...
As noted above, the ethical issues surrounding genetic determinations are complex and evolving. In recognition of investigator, institutional, and participant constraints, permission for future genetic determinations could be obtained as scientific issues emerge, perhaps offering with the consent procedures a set of guidelines about the type and disposition of studies possible in the future.
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From page 243... ...
This would allow a standardized, general approach to cross-national and cross-cultural studies, where uniformity of morbidity and family data is a problem. There could also be sets of items that emphasize known or potential genetic and congenital diseases, allowing later restudy of the families or populations as candidate genetic markers emerge.
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From page 244... ...
Gutowski, and S.L. Robinson 1994 HUMTH01: amplification, species specificity, population genetics and forensic applications.
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