The Impact of Social Contexts in Testing for Alpha-1 Antitrypsin Deficiency: The Roles of Physicians and Others

Klitzman, Robert

doi:10.1089/gtmb.2008.0106

Cited by 12 publications

(16 citation statements)

References 31 publications

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“…Also, study about psychosocial and ethics issues faced by adults at the risk for A1ATD has revealed that the education and diagnosis of A1ATD need to be improved (Klitzman, 2009). …”

Section: Topic Et Almentioning

confidence: 99%

Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases

Topić

Stanković²,

Rankov³

et al. 2012

Genetic Testing and Molecular Biomarkers

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Aim: Alpha-1-antitrypsin (A1AT) is the main inhibitor of neutrophil elastase, and severe alpha-1-antitrypsin deficiency (A1ATD) is a genetic risk factor for early-onset emphysema. Despite the relatively high prevalence of A1ATD, this condition is frequently underdiagnosed. Our aim was to determine the distribution of the A1ATD phenotypes/alleles in patients with lung diseases as well as in the Serbian population. Methods: The study included the adults with chronic obstructive pulmonary disease (COPD) (n = 348), asthma (n = 71), and bronchiectasis (n = 35); the control was 1435 healthy blood donors. The A1ATD variants were identified by isoelectric focusing or polymerase chain reaction-mediated site-directed mutagenesis. Results: PiMZ heterozygotes, PiZZ homozygotes, and Z allele carriers are associated with significantly higher risk of developing COPD than healthy individuals (odds ratios 3.43, 42.42, and 5.49 respectively). The calculated prevalence of PiZZ, PiMZ, and PiSZ was higher in patients with COPD (1:202, 1:8, and 1:1243) than in the Serbian population (1:5519, 1:38, and 1:5519). Conclusion: The high prevalence of A1ATD phenotypes/allele in our population has confirmed the necessity of screening for A1ATD in patients with COPD. On the other hand, on the basis of the estimated number of those with A1ATD among the COPD patients, it is possible to assess the diagnostic efficiency of A1ATD in the Serbian population.

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“…Also, study about psychosocial and ethics issues faced by adults at the risk for A1ATD has revealed that the education and diagnosis of A1ATD need to be improved (Klitzman, 2009). …”

Section: Topic Et Almentioning

confidence: 99%

Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases

Topić

Stanković²,

Rankov³

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…Predictive testing may reveal a wide range of risks, including being pre-symptomatic for a future disease (e.g., single-gene disorders like Huntington's disease), having an increased risk relative to the general population (e.g., inherited cancer), or being an asymptomatic carrier of a disease that could affect one's children (e.g., cystic fibrosis). As genetic medicine grows, so does concern about the potential use of genetic information for discrimination (Billings et al, 1992; Bombard et al, 2012; Freedman et al, 2003; Klitzman, 2009, 2010; Lowstuter et al, 2008; Otlowski, Taylor, & Bombard, 2012). …”

Section: Investigating Married Adults' Communal Coping With Genetic Hmentioning

confidence: 99%

“…It is associated with the defective production of alpha-1 antitrypsin, which protects lung tissue from damage (e.g., exposure to toxins in the air) and performs other positive functions for the body. Low levels of antitrypsin predispose people to COPD and liver disease, which can lead to early death (Klitzman, 2009). The diseases typically occur in later adulthood (Zuo et al, 2016) and have significant health burdens.…”

Section: Investigating Married Adults' Communal Coping With Genetic Hmentioning

confidence: 99%

Investigating married adults’ communal coping with genetic health risk and perceived discrimination

Smith

Sillars

Chesnut

et al. 2017

Communication Monographs

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Increased genetic testing in personalized medicine presents unique challenges for couples, including managing disease risk and potential discrimination as a couple. This study investigated couples' conflicts and support gaps as they coped with perceived genetic discrimination. We also explored the degree to which communal coping was beneficial in reducing support gaps, and ultimately stress. Dyadic analysis of married adults (N = 266, 133 couples), in which one person had the genetic risk for serious illness, showed that perceived discrimination predicted more frequent conflicts about AATD-related treatment, privacy boundaries, and finances, which, in turn, predicted wider gaps in emotion and esteem support, and greater stress for both spouses. Communal coping predicted lower support gaps for both partners and marginally lower stress.

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“…For example, there is some indication that young people may have heightened fears regarding education, future employment and eventual insurance discrimination (25)(26)(27)(28). They will have to decide whether to disclose their test results to family members and others (15,(29)(30)(31)(32)(33). Many people may struggle with matters related to dating and entering into committed relationships (7,34).…”

Section: Introductionmentioning

confidence: 99%

“…Some may make lifestyle changes to reduce their risks in order to prevent or delay the onset of symptoms (25). Other potential risks of testing are: breech of autonomy and confidentiality (15,19,(35)(36)(37)(38); anxiety (39); impact on self and social image (34-40-44), negative effect on family dynamics (19,29,41,(45)(46)(47), delayed independence from parental figures (34), limited futures regarding higher education, employment, and reproduction (42,45).…”

Section: Introductionmentioning

confidence: 99%

Informed Consent Process in Alpha-1 Testing of At-Risk Children: Views of Parents and Adults Tested as Children

Coors

Moseley

McGorray

2011

COPD: Journal of Chronic Obstructive Pulmonary Disease

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Targeted testing programs are identifying increasing numbers of adults affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) who are making decisions about genetic testing for their at-risk children. Although there are possible benefits, there are also potential risks. The purpose of this pilot study was to explore attitudes toward testing at-risk children from the first hand perspective of those involved, identify the benefits and risks experienced therein, and compare the views of parents and adults tested as children (ATC). The results of this pilot study suggest that ATC were significantly more favorable to including children in testing decisions than parents. ATC strongly indicated that they want to be involved in the testing decision and give permission prior to testing (p = 0.007). While the majority of ATC and parents were in favor of newborn screening for Alpha-1, parents had more extreme views, both positive and negative (p = 0.04). Both ATC and parents expressed significantly higher likelihoods of possible risks and benefits following Alpha-1 testing than they actually experienced. Results do not reveal serious harms from testing at-risk children. The two groups indicated that they want information regarding access to insurance, inheritance and expression, impact on anxiety, association with smoking, and usefulness in future planning prior to a decision to test or not to test at risk children. From the resulting data and ethical analysis we recommend that parents and children have relevant information prior to testing for Alpha-1 and that at risk children are directly involved in the decision-making process prior to testing.

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The Impact of Social Contexts in Testing for Alpha-1 Antitrypsin Deficiency: The Roles of Physicians and Others

Cited by 12 publications

References 31 publications

Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases

Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases

Investigating married adults’ communal coping with genetic health risk and perceived discrimination

Informed Consent Process in Alpha-1 Testing of At-Risk Children: Views of Parents and Adults Tested as Children

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