Genet Med. 2004 Jul-Aug;6(4):204-10.

Genetic testing for alpha1-antitrypsin deficiency.

Strange C, Dickson R, Carter C, Carpenter MJ, Holladay B, Lundquist R, Brantly ML.

Source

Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, Charleston, SC 29425, USA.

Abstract

PURPOSE:

The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for alpha1-antitrypsin deficiency.

METHODS:

In the study, 996 adult individuals requested and returned a home-administered, confidential, fingerstick blood test.

RESULTS:

Individuals highly rated the benefits of establishing a diagnosis (82%), helping family members (86%), and anticipating peace of mind (79%). 78% of 239 current smokers reported a high likelihood of smoking cessation if diagnosed with AATD. After testing, more than 60% indicated that they would share the results with family and physicians but < 30% would share results with insurance companies.

CONCLUSIONS:

Confidential home testing for genetic disorders requires a comprehensive program of participant support.

PMID:: 15266208; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Related citations

Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency. [Genet Test. 2008]
Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency.
Dickson MR, Carter CL, Carpenter MJ, McClure RL, McGee DA, Zapka JG, Strange C. Genet Test. 2008 Dec; 12(4):501-5.
Genetic testing of minors for alpha1-antitrypsin deficiency. [Arch Pediatr Adolesc Med. 2006]
Genetic testing of minors for alpha1-antitrypsin deficiency.
Strange C, Moseley MA, Jones Y, Schwarz L, Xie L, Brantly ML. Arch Pediatr Adolesc Med. 2006 May; 160(5):531-4.
Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. [Ann Behav Med. 2007]
Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency.
Carpenter MJ, Strange C, Jones Y, Dickson MR, Carter C, Moseley MA, Gilbert GE. Ann Behav Med. 2007 Feb; 33(1):22-8.
Review Screening and familial testing of patients for alpha 1-antitrypsin deficiency. [Chest. 2008]
Review Screening and familial testing of patients for alpha 1-antitrypsin deficiency.
Hogarth DK, Rachelefsky G. Chest. 2008 Apr; 133(4):981-8.
Review Laboratory diagnosis of alpha1-antitrypsin deficiency. [Transl Res. 2007]
Review Laboratory diagnosis of alpha1-antitrypsin deficiency.
Ferrarotti I, Scabini R, Campo I, Ottaviani S, Zorzetto M, Gorrini M, Luisetti M. Transl Res. 2007 Nov; 150(5):267-74. Epub 2007 Sep 14.

See reviews... See all...

Cited by 2 PubMed Central articles

Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease? [Pulm Med. 2010]
Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?
McGee D, Schwarz L, McClure R, Peterka L, Rouhani F, Brantly M, Strange C. Pulm Med. 2010; 2010:570679. Epub 2010 Jun 28.
The impact of social contexts in testing for alpha-1 antitrypsin deficiency: the roles of physicians and others. [Genet Test Mol Biomarkers. 2009]
The impact of social contexts in testing for alpha-1 antitrypsin deficiency: the roles of physicians and others.
Klitzman R. Genet Test Mol Biomarkers. 2009 Apr; 13(2):269-76.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Genetic testing for alpha1-antitrypsin deficiency.
Genetic testing for alpha1-antitrypsin deficiency.
Genet Med. 2004 Jul-Aug ;6(4):204-10.

PubMed
Risks for individuals with schizophrenia who are living in the community.
Risks for individuals with schizophrenia who are living in the community.
Psychiatr Serv. 2001 Oct ;52(10):1358-66.

PubMed
The signaling adaptors and pathways activated by TNF superfamily.
The signaling adaptors and pathways activated by TNF superfamily.
Cytokine Growth Factor Rev. 2003 Jun-Aug ;14(3-4):193-209.

PubMed
Infant sucking ability, non-organic failure to thrive, maternal characteristics,...
Infant sucking ability, non-organic failure to thrive, maternal characteristics, and feeding practices: a prospective cohort study.
Dev Med Child Neurol. 2002 Jun ;44(6):405-14.

PubMed
Understanding ERM proteins--the awesome power of genetics finally brought to bea...
Understanding ERM proteins--the awesome power of genetics finally brought to bear.
Curr Opin Cell Biol. 2007 Feb ;19(1):51-6. Epub 2006 Dec 18 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Display Settings:

Send to: