Putting the Search for Genes in Perspective
Open Access
- 1 April 2001
- journal article
- research article
- Published by SAGE Publications in International Journal of Health Services
- Vol. 31 (2) , 445-461
- https://doi.org/10.2190/jpfc-a4nw-kwt6-y2h7
Abstract
The sequencing of the human genome has been heralded by both the mass media and scientists as a breakthrough that will allow the detection of individuals at increased risk for common diseases and the tailoring of drugs to an individual's genetic profile in order to prevent disease. Sequencing is likely to benefit those at risk of developing rare diseases in which inherited mutations in a single gene play a major causal role. In the vast majority of people with common diseases, however, genotypes at many different loci, as well as environmental exposures, must be simultaneously present before disease appears. Elucidating the genes involved will prove elusive. In addition to the large number, different combinations account for a particular disease. Most of the genotypes that contribute to the constellation of necessary genes are uncommon and will be difficult to find. Common genotypes may confer susceptibility but will be weak predictors of disease. Because of the difficulty of discovering genes for common diseases, designing therapies will also prove difficult. More attention to environmental risk factors for particular diseases will have greater yield than a genetic search, but this too will be difficult because of environmental-genetic and other interactions. The search for risk factors for particular diseases neglects the political and social milieu in which individuals swim or sink and in which all diseases occur.Keywords
This publication has 41 references indexed in Scilit:
- How many diseases does it take to map a gene with SNPs?Nature Genetics, 2000
- Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitusNature Genetics, 2000
- Full-Genome Scan for Linkage in 50 Families Segregating the Bipolar Affective Disease PhenotypeAmerican Journal of Human Genetics, 2000
- A Population-Based Study of the Clinical Expression of the Hemochromatosis GeneNew England Journal of Medicine, 1999
- Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer PatientsAmerican Journal of Human Genetics, 1998
- Eugenics and Individual Phenotypic Variation: To What Extent Is Biology a Predictive Science?Science in Context, 1998
- The Risk of Cancer Associated with Specific Mutations ofBRCA1andBRCA2among Ashkenazi JewsNew England Journal of Medicine, 1997
- Genetic dissection of complex traits: guidelines for interpreting and reporting linkage resultsNature Genetics, 1995
- Associations of disease with genetic markers: Déjà vu all over againAmerican Journal of Medical Genetics, 1993
- Abnormal human haemoglobins. III the chemical difference between normal and sickle cell haemoglobinsBiochimica et Biophysica Acta, 1959