Parents’ expectations,preferences, and recall of germline findings in a childhood cancer precision medicine trial

Background

Germline genome sequencing in childhood cancer precision medicine trials may reveal pathogenic or likely pathogenic variants in cancer predisposition genes in more than 10% of children. These findings can have implications for diagnosis, treatment, and the child’s and family’s future cancer risk. Understanding parents’ perspectives of germline genome sequencing is critical to successful clinical implementation.

Methods

A total of 182 parents of 144 children (<18 years of age) with poor-prognosis cancers enrolled in the Precision Medicine for Children with Cancer trial completed a questionnaire at enrollment and after the return of their child’s results, including clinically relevant germline findings (received by 13% of parents). Parents’ expectations of germline genome sequencing, return of results preferences, and recall of results received were assessed. Forty-five parents (of 43 children) were interviewed in depth.

Results

At trial enrollment, most parents (63%) believed it was at least “somewhat likely” that their child would receive a clinically relevant germline finding. Almost all expressed a preference to receive a broad range of germline genomic findings, including variants of uncertain significance (88%). Some (29%) inaccurately recalled receiving a clinically relevant germline finding. Qualitatively, parents expressed confusion and uncertainty after the return of their child’s genome sequencing results by their child’s clinician.

Conclusions

Many parents of children with poor-prognosis childhood cancer enrolled in a precision medicine trial expect their child may have an underlying cancer predisposition syndrome. They wish to receive a wide scope of information from germline genome sequencing but may feel confused by the reporting of trial results.     

Domestic control of house dust mite allergen in children’s beds

Background: House dust mite allergen levels in humid coastal regions of Australia are high, particularly in beds. Because high allergen levels in beds are associated with more severe asthma, reduction of levels may be important for asthma control. Objective: We tested the effectiveness of an acaricidal treatment of bedding in combination with occlusive mattress and pillow encasings in reducing allergen levels in children’s beds in a community setting. Methods: A total of 14 beds of children were selected for the active intervention. In each home the bed of a sibling of nearest age was selected as the control. Dust was vacuumed from beds by using a standard protocol, and Der p 1 levels were measured by using ELISA. Adjacent settling dust was collected by using opened Petri dishes. The intervention consisted of encasing mattresses and pillows in occlusive covers and washing all bedding with Acaril, an acaricidal additive. The acaricidal wash was repeated twice in 7 households at 2-month intervals. Control beds were not treated. Results: The mean Der p 1 concentration at baseline was 27.9 μg/g in the active beds and 18.1 μg/g in the control beds. At 4 days after intervention, Der p 1 decreased to 3.2 μg/g and 15.7 μg/g in active and control beds, respectively. The average difference (active minus control) over the first 8-week cycle was 78.5% (P < .0001), and the difference over 3 washing cycles was 125.1% (P < .05). The mean rate of settling Der p 1 adjacent to the actively treated beds decreased from 24.4 ng·m^–2·d^–1 at baseline to 10.0 ng·m^–2·d^–1 after intervention (P < .01). Conclusion: A substantial reduction in Der p 1 levels in beds and in airborne dust in a humid region with naturally high house dust mite allergen levels can be achieved and sustained in a community setting with use of occlusive covers and a rigorous washing routine. (J Allergy Clin Immunol 2000;105: 1130-3.)     

Optometry‐facilitated teleophthalmology: an audit of the first year in Western Australia

Background

Lions Outback Vision has run a state‐wide teleophthalmology service since 2011. In September 2015 the Australian federal government introduced a Medicare reimbursement for optometry‐facilitated teleophthalmology consultations under specific circumstances. This audit demonstrates the first 12 months experience with this scheme. We aim to provide practical insights for others looking to embed a telemedicine program as part of delivering outreach clinical services.

Methods

A 12‐month retrospective audit was performed between September 2015 and August 2016, inclusive. A research officer used a specifically designed data extraction tool to record information from all teleophthalmology consultations performed in the time period. The primary outcome was the diagnosis at the end of the teleophthalmology consultation. Secondary outcome measures included the number of teleconsultations, cataract surgery rate, remoteness area of patients referred and imaging accompanying the referral.

Results

In the 12‐month period, 709 patients were referred resulting in 683 teleophthalmology teleconsultations. Cataract was the most frequent diagnosis (n = 287, 42.7 per cent), followed by glaucoma (n = 77, 11 per cent), age‐related macular degeneration (n = 30, 4.4 per cent) and diabetic retinopathy (n = 26, 3.8 per cent). Of those who had teleconsultations, 98.6 per cent were from Outer Regional, Remote or Very Remote Australia. One or more accompanying images or investigations were part of 349 (49 per cent) teleconsultations, most commonly optical coherence tomography (215, 30 per cent) and fundus photography (148, 21 per cent). Face‐to‐face consultations were undertaken at an outreach clinic in 23 (3.4 per cent) cases, to determine the diagnosis. There were no statistically significant factors associated with attendance at teleophthalmology consultation, or for successfully undergoing cataract surgery.

Conclusion

Teleophthalmology is a valuable adjunct to regional outreach ophthalmology services, providing patients with increased access to specialist care for a wide range of ophthalmic conditions, and more efficient access to surgical care.