Related Experiment Video
Updated: Jun 22, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Sequencing and its consequences: path dependence and the relationships between genetics and medicalization
Sara Shostak1, Peter Conrad, Allan V Horwitz
1Department of Sociology, Brandeis University, MS 071, Waltham, Massachusetts 02454-9110, USA. sshostak@brandeis.edu
AJS; American Journal of Sociology
|July 3, 2009
Summary
The relationship between genetics and medicalization is not automatic. The meaning and practice of genetic research depend on historical context and how conditions are medically classified over time.
Area of Science:
- Genetics and Medical Sociology
- History and Philosophy of Science
Background:
- Common assumptions link genetics and medicalization, influencing policy and research.
- Critiques often overlook the dynamic and context-dependent nature of this relationship.
Purpose of the Study:
- To challenge the assumed direct link between genetics and medicalization.
- To explore how historical and institutional factors shape genetic research meanings.
Main Methods:
- Analysis of three case studies with identified genetic markers.
- Examination of critical junctures in phenotype stabilization and classification.
Main Results:
- Genetic research meanings are contingent on their place in event sequences.
- Institutional stabilization of phenotypes and classification mechanisms influence genetic research practices.
- Path dependence explains inconsistencies between genetics and medicalization.
Conclusions:
- The assumed self-sustaining relationship between genetics and medicalization is flawed.
- Historical context and institutional factors are crucial for understanding genetic research.
- Path dependence offers a framework for analyzing the genetics-medicalization dynamic.
Related Concept Videos
02:02Genomics
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
03:00Next-generation Sequencing
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
01:29Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:05Maxam-Gilbert Sequencing
In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
Challenges of the Maxam-Gilbert Method
The...