Psychosocial Aspects of DNA Testing for Hereditary Hemochromatosis in At-Risk Individuals: A Systematic Review

Picot, Joanna; Bryant, Jackie; Cooper, Keith; Clegg, Andrew; Roderick, Paul; Rosenberg, William; Patch, Christine

doi:10.1089/gtmb.2008.0064

Cited by 13 publications

(6 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For conditions without immediate or proven management benefit, the ethical principle of non-maleficence is important as there is the potential for adverse psychosocial impacts including heightened worry about the future and helplessness without the counterbalance of clear medical benefit. 17 Although there is an increasingly well-developed literature describing only few adverse psychosocial impacts of best-practice adult genetic testing, [22][23][24][25] little is known about the impact of childhood testing. 26,27 Distress, anxiety, depression and reduced quality of life may result from the testing process in some children and family members.…”

Section: Introductionmentioning

confidence: 99%

Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

et al. 2017

View full text Add to dashboard Cite

This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Work Abstracts and CINAHL. We screened 945 abstracts and identified 21 studies representing the views of 3934 parents. Parents reported largely positive attitudes toward childhood genetic testing across different genetic tests with varying medical utility. Parents perceived a range of advantages and disadvantages of childhood genetic testing. Childhood genetic testing was viewed by most as beneficial. Parents' education level, genetic status, sex and sociodemographic status were associated with reported attitudes. This yielded some conflicting findings, indicating the need for further research. Genetic counseling remains essential to support this population in making well-informed decisions. Targeted interventions tailored to specific families with different sociodemographic characteristics may be useful. Further research on the long-term impact of childhood genetic testing on families is warranted.

show abstract

Section: Introductionmentioning

confidence: 99%

Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Moreover, individuals could even respond positively or favorably to knowing this information, since early identification of health risk could lead to preventive or risk-reducing treatments. For instance, a systematic review of at-risk individuals tested for predisposition to hereditary hemochromatosis found decreases in distress and increases in quality of life after such testing [9-11]. More relevant to PGT for common disease risk and risk factors, a recent study identified relief from self-blame following testing for a common obesity gene variant [12].…”

Section: Introductionmentioning

confidence: 99%

A New Approach to Assessing Affect and the Emotional Implications of Personal Genomic Testing for Common Disease Risk

O’Neill¹,

Tercyak²,

Baytop

et al. 2015

Public Health Genomics

View full text Add to dashboard Cite

Aims: Personal genomic testing (PGT) for common disease risk is becoming increasingly frequent, but little is known about people's array of emotional reactions to learning their genomic risk profiles and the psychological harms/benefits of PGT. We conducted a study of post-PGT affect, including positive, neutral, and negative states that may arise after testing. Methods: A total of 228 healthy adults received PGT for common disease variants and completed a semistructured research interview within 2 weeks of disclosure. The study participants reported how the PGT results made them feel in their own words. Using an iterative coding process, the responses were organized into three broad affective categories: negative, neutral, and positive affect. Results: Neutral affect was the most prevalent response (53.9%), followed by positive affect (26.9%) and negative affect (19.2%). We found no differences by gender, race, or education. Conclusions: While <20% of participants reported negative affect in response to learning their genomic risk profile for common diseases, a majority experienced either neutral or positive emotions. These findings contribute to the growing evidence that PGT does not impose significant psychological harms. Moreover, they point to a need to better link theories and assessments in both emotional and cognitive processing to capitalize on PGT information for healthy behavior change.

show abstract

“…Concerns have been raised by some authors that screening may cause psychological and social stress and can be expensive considering the relatively low prevalence and incomplete penetrance. However recent studies have shown that there are minimal psychological effects of screening [146][147][148][149]. Additionally, studies outside the United States where insurance and health care access and coverage are less of a concern have suggested that practical reasons such as lack of awareness and access to screening programs are the major reasons for non-participation in screening programs [150].…”

Section: Screening and Evaluation Of Family Membersmentioning

confidence: 99%

Diagnosis and treatment of hereditary hemochromatosis: an update

Kanwar

Kowdley

2013

Expert Review of Gastroenterology & Hepatology

View full text Add to dashboard Cite

Hereditary hemochromatosis is an inherited iron overload disorder caused by inappropriately low hepcidin secretion leading to increased duodenal absorption of dietary iron, most commonly in C282Y homozygous individuals. This can result in elevated serum ferritin, iron deposition in various organs and ultimately end-organ damage, although there is incomplete biochemical and clinical penetrance and variable phenotypic expression of the HFE mutation in hereditary hemochromatosis. An elevated SF >1000 mg/l [corrected] is associated with an increased risk of cirrhosis and mortality in C282Y homozygotes.Conversely, a SF <1000 µg/l is associated with a very low likelihood of cirrhosis, making liver biopsy unnecessary among C282Y homozygotes in the absence of concomitant risk factors for liver disease. Phlebotomy remains the mainstay of treatment and new treatments being studied include erythrocytapheresis and 'mini-hepcidins'. Iron overload is being recognized to play a carcinogenic role in hepatocellular carcinoma and other cancers, possibly supporting iron depletion in these patients.

show abstract

Psychosocial Aspects of DNA Testing for Hereditary Hemochromatosis in At-Risk Individuals: A Systematic Review

Abstract: The evidence on the psychosocial aspects of DNA testing for HH in at-risk individuals is limited. Further research might be required if other factors influencing the natural history of the disease phenotype are identified.

Cited by 13 publications

References 19 publications

Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

A New Approach to Assessing Affect and the Emotional Implications of Personal Genomic Testing for Common Disease Risk

Diagnosis and treatment of hereditary hemochromatosis: an update

Contact Info

Product

Resources

About