Lay people's understanding of and preference against the word ?mutation?
ABSTRACT Lay understandings of the term "mutation" are explored using three methodologies and three population bases. A community based sample (n = 848) employing a written survey to assess knowledge and understanding indicated good lay understanding of the basic concept of mutation. However, lay people associated mutation with reproductive outcomes, but not with changes in genes across the life span. A student sample (n = 241) employed a written survey to assess connotations of the term mutation. It showed a strong negative response to mutation. A community based sample (n = 120) employing focus groups also showed strong negative reactions to the term mutation and rejection of use of the term mutation in public service announcements (PSAs). The term variation had better response and is recommended as an alternative in genetic counseling and public media.
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ABSTRACT: Currently, one may describe awareness of genomics as limited, but growing in the US. Although awareness is limited, the US public expresses great concern that genomics could result in stigmatization and discrimination (Reproductive genetic testing: What America thinks. Washington, DC: Genetics and Public Policy Center, 2004). This situation provides a rare opportunity to think carefully about how to design communication to a general public in ways that galvanize positive sentiments around genomics instead of stimulate stigmas. This manuscript provides a synthesis of communication theories relevant to framing genomics in stigma and challenge formats, the details necessary to understand what such messages look like, and an illustration of the two frames. Many people in different roles are engaging in these conversations in many different contexts. Through the growing exposure and interest in genomics, the opportunity to proactively script messages to form beliefs and attitudes about genomics, instead of managing pre-existing ones, may disappear quickly.Journal of Genetic Counseling 07/2007; 16(3):289-98. DOI:10.1007/s10897-006-9075-y · 1.75 Impact Factor
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ABSTRACT: This study compared language preferences to describe a cancer-related mutation in three groups: 253 members of the general community, 20 clinicians working in cancer genetics, and 269 individuals at increased risk of carrying a cancer-related mutation (including 198 women with a strong family history of breast and/or ovarian cancer, and 71 individuals with a family history of hereditary non-polyposis colorectal cancer). In the community sample, 'faulty gene' was the preferred term to describe a cancer-related mutation, although females, those affected by cancer and those who felt cancer had a large impact on their lives were more likely to prefer the terms 'gene change' or 'altered gene'. In contrast, the clinicians' preference ratings for 'faulty gene' and 'gene change' were equal. When forced to choose between 'faulty gene' and 'altered gene', the high-risk patient group reported preferring 'faulty gene', although over 40% were happy with either term. Further research investigating individuals' understanding of the different terms that can be used to describe a cancer-related mutation, and the functional impact of these terms on patients' thoughts and feelings about their condition and on their health-related behavior after genetic counseling would be worthwhile.Clinical Genetics 03/2007; 71(2):140-7. DOI:10.1111/j.1399-0004.2007.00754.x · 3.65 Impact Factor
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ABSTRACT: The Omani population has an astoundingly high number of neonates born with congenital anomalies, deformations, and chromosomal abnormalities. Recent advancements in health care have ensured that the number of affected children who survive infancy has increased significantly. However, most genetic diseases do not have a cure. This makes a significant impact on affected families and includes economic as well as ethical, psychological, and social issues. Families tend to be stressed, and may even be depressed, face financial difficulties necessitated by the increasing medical expenditures, carry a sense of inadequacy and misfortune, and face social disadvantages and stigmatization, forcing a number of families to hide their affected members. Programs targeting the efficient prevention and management of these genetic diseases, therefore, would require certain adjustments in the health care delivery. High ethical principles need to be maintained and promoted. Genetic counseling can be used very effectively, especially since most parents tend to be extremely receptive to counseling, and readily accept family screening for carrier status. Reassuring carriers is also equally important. Educational efforts need to concentrate on making people aware that a genetic disease is not a form of punishment. Important for this is the development and promotion of a new genetic vocabulary that avoids the use of negative connotations for words. Medical personnel need to be trained to empathize with the patients, and to adopt a sensitive approach while dealing with patients and their families. In rural settings, the privacy of the family also needs to be maintained. Psychological rehabilitation of affected patients and their families is another important issue. Finally, an integrated approach needs to be adopted for the efficient management of genetic disorders, which involves health care institutions, social agencies, and community support groups.