Communicating personalized genomic risk results for common diseases to the general population as a form of tailored prevention is novel and may require alternative genetic counseling service delivery models. We describe the development and evaluation of a communication protocol for disclosing melanoma genomic risk information to the asymptomatic general population and assess participants' satisfaction and acceptability. Participants (n = 117) were aged 22-69 years, living in New South Wales, Australia and unselected for family history. They provided a saliva sample and had genomic testing for melanoma for low to moderate penetrant melanoma susceptibility variants in 21 genes. Participants could choose to receive their results from a genetic counselor via telephone, followed by a mailed booklet or to receive their risk result via mailed booklet only with a follow-up call for those at high risk. A follow-up questionnaire was completed by 85% of participants 3-months later. Most participants (80%) elected to receive their result via telephone. Participants were highly satisfied with the delivery of results (mean 3.4 out of 4, standard deviation 0.5), and this did not differ by delivery mode, risk category, age or sex. On follow-up, 75% accurately recalled their risk category, 6% indicated a preference for a different delivery mode, either electronic or face-to-face. The process of disclosing genomic risk results to the general population over the telephone with accompanying written material was feasible and acceptable, and may be useful for communicating polygenic risk for common diseases in the context of increasing demands for genomic testing.
Background: As interest in reproductive genetic carrier screening rises, with increased availability, the role of healthcare practitioners is central in guiding uptake aligned with a couples' values and beliefs. Therefore, practitioners' views on implementation are critical to the success of any reproductive genetic carrier screening programme. Aim: To explore healthcare practitioners' perceptions of the barriers and enablers to implementation. Materials & Methods: We undertook a systematic review of the literature searching seven databases using health practitioner, screening and implementation terms returning 490 articles. Results: Screening led to the inclusion of 26 articles for full-text review. We found three interconnected themes relating to reproductive genetic carrier screening: (i) use and impact, (ii) practitioners' beliefs and expectations and (iii) resources. Discussion: Barriers and enablers to implementation were present within each theme and grouping these determinants by (a) community for example lack of public interest, (b) practitioner for example lack of practitioner time and (c) organisation for example lack of effective metrics, reveals a preponderance of practitioner barriers and organisational enablers. Linking barriers with potential enablers leaves several barriers unresolved (e.g., costs for couples) implying additional interventions may be required. Conclusion: Future research should draw on the findings from this study to develop and test strategies to facilitate appropriate offering of reproductive genetic carrier screening by healthcare practitioners.
As early as 1653 Rudbeck pointed out that the thoracic duct may divide in the thorax and send branches to the right side of the neck. Lee ('22) presented an excellent review of previous work with the thoracic duct and supplied evidence in cats of lymphatico-venous connections which were demonstrable after ligation of this vessel. Since biochemists had been unable to account for all of previously ingested fat from the cannulated thoracic duct (Munk, 1880 ; Bloor, '16), Lee suggested that collateral lymphatic vessels might be responsible for the disposal of the missing portion of the fat removed from the intestine. After unsuccessful attempts to recover the missing fraction of absorbed fat, Eckstein ('25) and Brockett, Spiers, and Himwicli ( '35) concluded that more attention should be directed to possible lymphatico-venous communications other than the left thoracic duct which was used for the collection of chyle in their experiments. Blalock and his associates ('37) were able to obtain complete lpmphatic blockage in only three of fiftv-two dogs, although they used a wide variety of methods to attain this end. Right lymphatic ducts containing chylous material were observed during studies on the adaptive value of absorption of fat into the lymphatics (,Johnson and Freeman, '38).In view of the paucity of information concerning the courses which lymph may follow in passing from the intestine to the blood stream in the dog, it was felt that routine anatomical study of this system would prove valuable in determining the adequacy of methods based on the collection of lymph from the left thoracic duct as a measure of total lymph transfer 543
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