Stakeholder views on secondary findings in whole-genome and whole-exome sequencing:a systematic review of quantitative and qualitative studies

Purpose: As whole-exome and whole-genome sequencing (WES/WGS) move into routine clinical practice, it is timely to review data that might inform the debate around secondary findings (SF) and the development of policies that maximize participant benefit. Methods: We systematically searched for qualitative and quantitative studies that explored stakeholder views on SF in WES/WGS. Framework analysis was undertaken to identify major themes. Results: 44 articles reporting the views of 11,566 stakeholders were included. Stakeholders were broadly supportive of returning ‘actionable’ findings, but definitions of actionability varied. Stakeholder views on SF disclosure exist along a spectrum: potential WES/WGS recipients’ views were largely influenced by a sense of rights, while views of genomics professionals were informed by a sense of professional responsibility. Experience of genetic illness and testing resulted in greater caution about SF, suggesting that truly informed decisions require an understanding of the implications and limitations of WES/WGS and possible findings. Conclusion: This review suggests that bidirectional interaction during consent might best facilitate informed decision-making about SF, and that dynamic forms of consent, allowing for changing preferences, should be considered. Research exploring views from wider perspectives and from recipients who have received SF is critical if evidence-based policies are to be achieved.</p

Emerging materials for solar cell applications: electrodeposited CdTe. Third quarter report, September 1-November 30, 1979

Major emphasis during the period was centered on improving the material properties of electrodeposited CdTe. Using newly devised means for peeling thin CdTe films off the ITO-coated glass substrates, it was possible to accurately measure material density and electrical resistivity. Density proved to be 40% below the bulk CdTe figure of about 6 gm/cm/sup 3/, while resistivity of supposedly doped CdTe films exceeded 10/sup 5/..cap omega.. - cm. These findings prompted initiation of a beneficial change in plating procedures which increased the thin film polycrystalline CdTe density to the bulk value while, at the same time, good columnar growth was obtained. Films made under the old plating process were made into Schottky diodes showing good uniformity and V/sub oc/ values generally exceeding 0.5V. Short circuit current of the best of these was 9.5mA/cm/sup 2/ despite the fact that light entered through a thick gold film and was strongly attenuated

Emerging materials for solar cell applications. First quarter report, February 15-May 31, 1979

Work to develop the theory controlling the electroplating of a compound semiconductor on a transparent, conductive substrate and to demonstrate operative solar cells using the approach is reported. The current program is divided essentially into three paralleled team efforts. The first effort centers on refining the electroplating process at Monosolar so thicker and more uniform layers of p- or n-type cadmium telluride can be plated on both In/sub 2/O/sub 3/:Sn- and Ni- coated substrates. 1 ..mu..M thick polycrystalline films have been achieved for the first time ever without peeling problems, a thickness optimum for maximum solar absorption and economy of materials. Second, work is underway at UCLA to physically and electrically characterize the films and diodes made from them. Under proper conditions Schottky diodes with better than 10/sup 4/ rectification ratios at 1.5 V were obtained along with preliminary indications of grain sizes up to 1 ..mu..M. Measurements of these diodes revealed the presence of deep trapping level(s) that may be associated with plating process impurities that since may have been eliminated. Third, work so far on developing improved techniques for depositing ITO has been successful at UCLA in their effort to eliminate persistent problems with ITO obtained from outside suppliers serving the less demanding liquid crystal display (LCD) industry

The magnetic moment of the first-excited 2+ state in 18O

The magnetic decoupling method, applied to highly ionized nuclear-excited 18O atoms, has yielded for the 198 MeV 2+ state the value |g| = 0.35 ± 0.04. In conjunction with the recently determined negative sign, this value agrees well with weak j-j coupling predictions

Health-care professionals' responsibility to patients' relatives in genetic medicine: a systematic review and synthesis of empirical research

Purpose: the extent of the responsibility of health-care professionals (HCPs) to ensure that patients’ relatives are told of their risk is unclear. Current international guidelines take confidentiality to the individual patient as the default position, but some suggest that disclosure could be default and genetic information could be conceptualized as familial.Methods: our systematic review and synthesis of 17 studies explored the attitudes of HCPs, patients, and the public regarding the extent of HCPs’ responsibility to relatives with respect to disclosure.Results: health-care professionals generally felt a responsibility to patients’ relatives but perceived a variety of reasons why it would be difficult to act on this responsibility. Public/patient views were more wide-ranging. Participants identified several competing and overlapping arguments for and against HCP disclosure: guidelines do not permit/mandate it, privacy, medical benefit, impact on family dynamics, quality of communication, and respecting autonomy.Conclusion: we argue that HCPs can sometimes share genetic information without breaching confidentiality and that they could factor into their considerations the potential harm to family dynamics of nondisclosure. However, we need more nuanced research about their responsibilities to relatives, particularly as genomic tests are used more frequently in clinical practic