Introduction to Core Concepts for the Lesson

Lesson 6: Page 1 of 17

Clinical Applications of Genomics : Introduction to Core Concepts for the Lesson

Genomics:
describes the study of all the genes in a person, as well as interactions of those genes with each other and with that person's environment. (http://www.cdc.gov/genomics/public
/faq.htm)

Genome: all of the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (http://genome.gov/10002096)

The completion of the Human Genome Project has described the entire complement of genes (or genome) in a human being.¹ This information has greatly enhanced the pace of gene-based research and the pace of translating this knowledge into clinical applications.

These applications have the potential to improve human health through disease prevention and treatment. However, several challenges must be overcome before this potential can be realized. Large gaps in our knowledge about the health benefits and harms of gene-based clinical applications make it hard to evaluate their utility to the patient and the clinician. Since many clinical applications involve genetic testing, they raise concerns related to ethical, legal, and social issues. Examples of these issues include the following:

A positive test in a person intending to have children, or a positive test in a fetus, may influence reproductive choices.
The legal boundary between patient-physician confidentiality and a duty to inform a family member at risk for an inherited disease is unclear.
Mandatory population-based newborn screening precludes an informed discussion with parents regarding a decision to test.
A positive test may lead to employment and health insurance discrimination.
The patenting of gene sequences poses a barrier to integrated genetic testing and counseling services, which may increase healthcare costs and stifle research.²

Ethical, legal, and social issues typically pertain to genetic testing for germline variations, which is distinct from testing for somatic variations. Since somatic variations are neither inherited nor transmitted to children, many of these issues do not apply; therefore, applications based on somatic variations may be more readily adopted into clinical practice.