RESUMEN
BACKGROUND: The extent to which participants act to clinically verify research results is largely unknown. This study examined whether participants who received Lynch syndrome (LS)-related findings pursued researchers' recommendation to clinically verify results with testing performed by a CLIA-certified laboratory. METHODS: The Fred Hutchinson Cancer Research Center site of the multinational Colon Cancer Family Registry offered non-CLIA individual genetic research results to select registry participants (cases and their enrolled relatives) from 2011 to 2013. Participants who elected to receive results were counseled on the importance of verifying results at a CLIA-certified laboratory. Twenty-six (76.5%) of the 34 participants who received genetic results completed 2- and 12-month postdisclosure surveys; 42.3% of these (11/26) participated in a semistructured follow-up interview. RESULTS: Within 12 months of result disclosure, only 4 (15.4%) of 26 participants reported having verified their results in a CLIA-certified laboratory; of these four cases, all research and clinical results were concordant. Reasons for pursuing clinical verification included acting on the recommendation of the research team and informing future clinical care. Those who did not verify results cited lack of insurance coverage and limited perceived personal benefit of clinical verification as reasons for inaction. CONCLUSION: These findings suggest researchers will need to address barriers to seeking clinical verification in order to ensure that the intended benefits of returning genetic research results are realized.
Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Pruebas Genéticas , Adulto , Anciano , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/psicología , Proteínas de Unión al ADN/genética , Familia , Femenino , Investigación Genética , Pruebas Genéticas/normas , Humanos , Cobertura del Seguro , Laboratorios/normas , Masculino , Persona de Mediana Edad , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/genética , Homólogo 1 de la Proteína MutL/genética , Proteína 2 Homóloga a MutS/genética , Sistema de Registros , Encuestas y Cuestionarios , Adulto JovenRESUMEN
There is consensus internationally that research participants should be offered the opportunity to receive clinically relevant genetic information identified through research, but there is little empirical peer-reviewed work documenting this process. We report the experience of conducting genetic research with nearly 35,000 participants in the Colon Cancer Family Registry, based in the USA, Canada, Australia, and New Zealand. Investigators from six multinational sites provided information about disclosure protocols, implementation, and uptake of genetic results and made suggestions to inform practice. Across 5 of the 6 registry sites, 1,634 participants in families with mismatch repair or MutYH gene mutations have been offered results. Participant uptake ranged from 56 to 86 %. Researchers faced significant challenges in the effort to return results. We offer suggestions in five key areas: (1) planning for the disclosure process, (2) participant information, (3) autonomy of participants, (4) monitoring scientific progress, and (5) involvement of stakeholders. Despite increasing discussion of the importance of returning incidental findings from genetic research, this paper highlights the considerable diversity, challenges, and costs faced in practice when returning expected findings with established utility and validity. We argue that more work is needed to ensure that genetic results in research are optimally managed.
RESUMEN
This article reports findings from a randomized controlled trial of massage and guided meditation with patients at the end of life. Using data from 167 randomized patients, the authors considered patient outcomes through 10 weeks post-enrollment, as well as next-of-kin ratings of the quality of the final week of life for 106 patients who died during study participation. Multiple regression models demonstrated no significant treatment effects of either massage or guided meditation, delivered up to twice a week, when compared with outcomes of an active control group that received visits from hospice-trained volunteers on a schedule similar to that of the active treatment arms. The authors discuss the implications of their findings for integration of these complementary and alternative medicine therapies into standard hospice care.