Secretary's Advisory Committee on Genetic Testing

By Carr, Sarah; Goodwin, Suzanne M. | National Forum, Summer 1999 | Go to article overview

Secretary's Advisory Committee on Genetic Testing


Carr, Sarah, Goodwin, Suzanne M., National Forum


Its Emerging Role in Public Policy Deliberation on Genetic Tests

The Secretary's Advisory Committee on Genetic Testing (SACGT) was established by the U.S. Secretary of Health and Human Services, Donna E. Shalala, to provide a public forum for the formulation of policy advice in the complex and growing area of genetic testing. After a careful nomination and selection process, the Secretary announced the appointment of thirteen advisors to the SACGT in June 1999. The first meeting of the SACGT was held June 30, 1999. This article describes the purpose, formation, and function of the SACGT. Before addressing these questions about the role of the SACGT, we first will explain what genetic testing is, how it is currently used, and what new uses it may be put to in the future.

WHAT IS GENETIC TESTING?

Genetic testing is the analysis of genes or gene products to detect mutations that result in genetic disease or increase a person's susceptibility to disease. A mutation is the omission, addition, or alteration of one or more nucleotides, the building blocks of genes. When a mutation occurs, the gene may not be able to produce the protein it is meant to make or may produce an altered form or too much or too little of the protein. Sometimes an entire gene is absent, and the protein it is programmed to produce cannot be made. In other instances, genes switch locations and are inappropriately or permanently turned on or off. When such events occur, chemical processes or reactions in which the protein is involved may happen incorrectly or not at all, leading to a genetic disease.

Mutations can be inherited or develop throughout one's lifetime. Inherited mutations are found in every cell of the body, whereas acquired mutations occur sporadically in individual cells. Currently, more than 4,000 diseases are thought to stem from inherited gene mutations. Some of these diseases, such as sickle cell anemia and cystic fibrosis, are caused by a single gene mutation while others, such as heart disease and most cancers, arise from a complex interplay between multiple genes and between genes and environmental factors.

Genetic testing detects mutations in several ways. DNA and its nucleotides, taken from cells in a sample of blood or from other body fluids and tissues, can be analyzed to detect alterations in the biochemical composition of DNA, in chromosomes, or in gene sequences, indicating the possibility of genetic disease. Genetic tests can also use RNA (DNA directs the production of RNA, which directs the production of proteins) to detect inheritable disease-related mutations. In addition, mutations can be detected by biochemical testing for the presence or absence of key proteins or metabolites that signal aberrant genes.

Newborn screening, which is mandated by law in most states, is currently the most common form of genetic testing. Every infant born in the United States today is screened for phenylketonuria and congenital hypothyroidism, and those born in certain states are screened for additional disorders. Genetic testing is also performed for other purposes, including to establish prenatal and clinical diagnoses, to determine paternity, and to aid forensic investigations. Increasingly, it is used to predict an individual's risk of developing a genetic disease in the future and to identify carriers, individuals who will not develop the disease themselves but may conceive a child who will have the disease. In addition, genetic tests are used to test for genetic defects arising from acquired diseases such as genetic cancers.

According to GeneTests(TM), a directory of clinical laboratories providing testing for genetic disorders, genetic testing is clinically available for 339 diseases, and more than 216 laboratories in the United States perform such tests. Testing is available for an additional 325 diseases on a research basis only;194 laboratories conduct these research tests. Most of these tests are for rare, single or contiguous gene disorders and are used to make or confirm a diagnosis. …

The rest of this article is only available to active members of Questia

Already a member? Log in now.

Notes for this article

Add a new note
If you are trying to select text to create highlights or citations, remember that you must now click or tap on the first word, and then click or tap on the last word.
One moment ...
Default project is now your active project.
Project items

Items saved from this article

This article has been saved
Highlights (0)
Some of your highlights are legacy items.

Highlights saved before July 30, 2012 will not be displayed on their respective source pages.

You can easily re-create the highlights by opening the book page or article, selecting the text, and clicking “Highlight.”

Citations (0)
Some of your citations are legacy items.

Any citation created before July 30, 2012 will labeled as a “Cited page.” New citations will be saved as cited passages, pages or articles.

We also added the ability to view new citations from your projects or the book or article where you created them.

Notes (0)
Bookmarks (0)

You have no saved items from this article

Project items include:
  • Saved book/article
  • Highlights
  • Quotes/citations
  • Notes
  • Bookmarks
Notes
Cite this article

Cited article

Style
Citations are available only to our active members.
Buy instant access to cite pages or passages in MLA, APA and Chicago citation styles.

(Einhorn, 1992, p. 25)

(Einhorn 25)

1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25, http://www.questia.com/read/27419298.

Cited article

Secretary's Advisory Committee on Genetic Testing
Settings

Settings

Typeface
Text size Smaller Larger Reset View mode
Search within

Search within this article

Look up

Look up a word

  • Dictionary
  • Thesaurus
Please submit a word or phrase above.
Print this page

Print this page

Why can't I print more than one page at a time?

Help
Full screen

matching results for page

    Questia reader help

    How to highlight and cite specific passages

    1. Click or tap the first word you want to select.
    2. Click or tap the last word you want to select, and you’ll see everything in between get selected.
    3. You’ll then get a menu of options like creating a highlight or a citation from that passage of text.

    OK, got it!

    Cited passage

    Style
    Citations are available only to our active members.
    Buy instant access to cite pages or passages in MLA, APA and Chicago citation styles.

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn, 1992, p. 25).

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn 25)

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences."1

    1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25, http://www.questia.com/read/27419298.

    Cited passage

    Thanks for trying Questia!

    Please continue trying out our research tools, but please note, full functionality is available only to our active members.

    Your work will be lost once you leave this Web page.

    Buy instant access to save your work.

    Already a member? Log in now.

    Oops!

    An unknown error has occurred. Please click the button below to reload the page. If the problem persists, please try again in a little while.