Genetic Testing: Practical, Ethical, and Counseling Considerations

Ensenauer, Regina; Michels, Virginia V.; Reinke, Shanda S.

doi:10.4065/80.1.63

Cited by 31 publications

(37 citation statements)

References 54 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This may also have implications for healthcare provider education and clinical care within the limitations of the primary care environment. Recommendations emphasize the need for comprehensive planning (Payne et al, 1997), ongoing monitoring of long-term psychological and social effects of screening (Henneman et al, 2002), and the importance of pre-and posttest genetic counseling (Wildhagen et al, 1998;Ensenauer et al, 2005). How the needed logistical, educational, and counseling resources will be coordinated to support the primary care health system both in the United States and internationally is yet to be defined.…”

Section: Discussionmentioning

confidence: 99%

Pregnancy as Foreground in Cystic Fibrosis Carrier Testing Decisions in Primary Care

Sparbel

Williams

2009

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

Cystic fibrosis carrier testing (CFCT) is among the first of the DNA tests offered prenatally in primary care settings. This paper from a descriptive qualitative study describes the influence of pregnancy in CFCT decisions by women receiving community-based prenatal care. Twenty-seven women receiving prenatal care in Midwestern U.S. primary care clinics completed semistructured interviews. Audiotaped interviews were analyzed using content analysis. Participants described decision-making influences and strategies from the perspective of ''being pregnant.'' Patterns of attitudes and beliefs include (1) dealing with emotions, (2) pregnancy is natural, and (3) thinking about the baby. Strategies in the decision-making process included (1) reducing stress, (2) choosing what is relevant, (3) doing everything right, (4) wanting to be prepared, (5) delaying information, and (6) trusting God. While other factors were mentioned by some women, major themes reflect the influence of currently being pregnant on the decision-making process. These findings suggest that pregnancy is a powerful influence on the decision-making process and may not be the optimal time to make fully informed decisions regarding genetic carrier testing. Further understanding of factors influencing the genetic testing decisionmaking process is needed. Offering CFCT prior to conception is advocated.

show abstract

Section: Discussionmentioning

confidence: 99%

Pregnancy as Foreground in Cystic Fibrosis Carrier Testing Decisions in Primary Care

Sparbel

Williams

2009

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

show abstract

“…After considerable thought, many individuals choose against genetic testing for conditions as varied as breast cancer, Huntington disease, and Alzheimer disease, exercising, in effect, their right not to know. 12,16 Concern over the potential for psychological distress and other potential harms associated with receiving such information is especially acute when no effective preventive interventions exist. While experts debate the risk-benefit ratio of offering genetic testing when no effective preventive interventions exist, the advent of direct-to-consumer services giving people direct access nearly moots that discussion.…”

Section: Genomic Information: Risks and Burdensmentioning

confidence: 99%

Advising patients about obtaining genomic profiles

Chen

Shepherd²

2011

Neur Clin Pract

View full text Add to dashboard Cite

SummaryNeurologists, as all physicians, should begin to familiarize themselves with elements of genomic medicine to help their patients navigate the promises and pitfalls of obtaining genomic profiles. The neurologist should encourage a realistic assessment of the patient's expectations regarding the genetic information to be provided and apprise the patient of the challenges involved in obtaining interpretable, clinically useful information. A review of risks of obtaining genomic information is equally important. Discrimination, loss of privacy, receiving inaccurate or unwanted information, and learning information that may create obligations to disclose to others are all possibilities. As genomic research and direct-toconsumer opportunities to obtain genomic information expand, reliance on personal physicians for ethical advice based on current advancements in genomic profiling should be anticipated.A 49-year old Chinese American woman with chronic headache and her husband consider enrollment in a study investigating genetic and environmental contributions to headache. The couple are curious about their genomic profiles and wonder if this information might help them make better health care decisionsfor example, by explaining why she has headaches and whether he is at high risk for stroke since his father had stroke at an early age. The pair want to contribute to research and are excited they could get this information free from the study, yet remain undecided. Based in part on recommendations found on direct-to-consumer Web sites to discuss

show abstract

“…Because testing yields important genetic information that remains unchanged throughout the individual's life time, it raises some important issues for discussion, such as informed consent to testing, protection of genetic information, handling of specimens used in testing, and genetic counseling before and after testing. Also, the individual's genetic information is shared with relatives [9]. The "Guidelines for genetic testing" in 2003 were proposed by a consortium of 10 Japanese genetic-medicine-related societies and describe the need for genetic counseling before and after genetic testing.…”

Section: Genetic Medicine and Familial Endocrine Tumor Syndromesmentioning

confidence: 99%

Current Status of Clinical Care for Familial Endocrine Tumor Syndromes in Japan

2005

View full text Add to dashboard Cite

Abstract. We performed nationwide questionnaire-based surveys to characterize the current status of medical services for endocrine tumor syndromes, such as multiple endocrine neoplasia (MEN) and von Hippel-Lindau disease (VHL), in Japan. About 30% of the respondents had seen patients with either MEN or VHL, but the number of patients most of respondents had encountered was 5 or fewer. On the other hand, a large number of patients had been seen in a few hospitals, which seemed to be the result of the availability of specialists, rather than of geographic location. Although nearly 90% of hospitals had performed genetic tests, less than half of the hospitals had a clinical genetics division that provided genetic counseling to patients and/or family members. Not all of the respondents were thoroughly familiar with the "Guidelines for genetic testing" proposed by the consortium of Japanese genetic-medicine-related societies in 2003. Only 27.8% of respondents have read the guidelines and understood their concepts.

show abstract

Genetic Testing: Practical, Ethical, and Counseling Considerations

Cited by 31 publications

References 54 publications

Pregnancy as Foreground in Cystic Fibrosis Carrier Testing Decisions in Primary Care

Pregnancy as Foreground in Cystic Fibrosis Carrier Testing Decisions in Primary Care

Advising patients about obtaining genomic profiles

Current Status of Clinical Care for Familial Endocrine Tumor Syndromes in Japan

Contact Info

Product

Resources

About