The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.

BACKGROUND: BRCA1/2 mutation status has increasing relevance for ovarian cancer treatments, making traditional coordination of genetic testing by genetic services unsustainable. Consequently alternative models of genetic testing have been developed to improve testing at the initial diagnosis for all eligible women. METHODS: A training module to enable mainstreamed genetic testing by oncology healthcare professionals was developed by genetic health professionals. Oncology healthcare professionals completed questionnaires before and 12 months post-training to assess perceived skills, competence and barriers to their coordinating genetic testing for women with high-grade non-mucinous epithelial ovarian cancer. Genetic health professionals were surveyed 12 months post-training to assess perceived barriers to implementation of mainstreaming. RESULTS: 185 oncology healthcare professionals were trained in 42 workshops at 35 Australasian hospitals. Of the 273 tests ordered by oncology healthcare professionals post-training, 241 (93.1%) met national testing guidelines. The number of tests ordered by genetic health professionals reduced significantly (z = 45.0, p = 0.008). Oncology healthcare professionals' perceived barriers to mainstreamed testing decreased from baseline to follow-up (t = 2.39, p = 0.023), particularly perceived skills, knowledge and attitudes. However, only 58% reported either 'always' or 'nearly always' having ordered BRCA testing for eligible patients at 12 months, suggesting oncology healthcare professionals' perceived barriers were not systematically addressed through training. CONCLUSIONS: Oncology healthcare professionals have demonstrated a willingness to be involved in the provision of genetic testing in a mainstreaming model. If oncology services are to hold responsibility for coordinating genetic testing, their readiness will require understanding of barriers not addressed by training alone to inform future intervention design.

Children and young people's understanding of inherited conditions and their attitudes towards genetic testing: A systematic review.

Children and young people are increasingly likely to receive information regarding inherited health risks relevant to their genetic relatives and themselves. We reviewed the literature to determine what children and young people (21 years and younger) understand about inherited conditions and their attitudes towards genetic testing. We screened 1815 abstracts to identify 20 studies representing the perspectives of 1811 children and young people between the ages of 6 and 21 years (1498 children or young people at general population-level risk from 9 studies, 313 affected/at risk from 15 studies). Children and young people at general population-level risk demonstrated a basic understanding that disease predisposition can be inherited within families. Those affected by or at risk of genetic conditions inferred their genetic status from observable, relational characteristics within their family and the results of personal genetic testing if it had occurred, but some misunderstandings of important genetic concepts were evident. Children and young people expressed interest in and a willingness to undertake personal genetic testing, but also articulated concerns about the limitations and risks of testing. Paediatric patients require developmentally-sensitive genetic counselling and support in navigating the unique landscape of their condition.

The Avatar Acceptability Study: Survivor, Parent and Community Willingness to Use Patient-Derived Xenografts to Personalize Cancer Care.

BACKGROUND: Using patient-derived xenografts (PDXs) to assess chemosensitivity to anti-cancer agents in real-time may improve cancer care by enabling individualized clinical decision-making. However, it is unknown whether this new approach will be met with acceptance by patients, family and community. METHODS: We used a cross-sectional structured survey to investigate PDX acceptability with 1550 individuals across Australia and New Zealand (648 survivors of adult and childhood cancer, versus 650 community comparisons; and 48 parents of childhood cancer survivors versus 204 community parents). We identified factors influencing willingness-to-use PDXs, willingness-to-pay, maximum acceptable wait-time, and maximum acceptable number of mice used per patient. FINDINGS: PDXs were highly acceptable: >80% of those affected by cancer felt the potential advantages of PDXs outweighed the disadvantages (community participants: 68%). Survivors' and survivors' parents' most highly endorsed advantage was 'increased chance of survival'. 'Harm to animals' was the least endorsed disadvantage for all groups. Cancer survivors were more willing to use PDXs than community comparisons [p < ·001]. Survivors and survivors' parents were willing to pay more [p < ·001; p = ∙004 respectively], wait longer for results [p = ·03; p = ∙01], and use more mice [p = ·01; p < ∙001] than community comparisons. Male survivors found PDXs more acceptable [p = ·01] and were willing to pay more [p < ·001] than female survivors. Survivors with higher incomes found PDXs more acceptable [p = ·002] and were willing to pay more [p < ·001] than survivors with lower incomes. Mothers found PDXs more acceptable [p = ·04] but were less willing to wait [p = ·02] than fathers. INTERPRETATION: We found significant attitudinal support for PDX-guided cancer care. Willingness-to-pay and maximum acceptable number of mice align well with likely future usage. Maximum acceptable wait-times were lower than is currently achievable, highlighting an important area for future patient education until technology has caught up.

Parents' attitudes toward genetic testing of children for health conditions: A systematic review.

This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Work Abstracts and CINAHL. We screened 945 abstracts and identified 21 studies representing the views of 3934 parents. Parents reported largely positive attitudes toward childhood genetic testing across different genetic tests with varying medical utility. Parents perceived a range of advantages and disadvantages of childhood genetic testing. Childhood genetic testing was viewed by most as beneficial. Parents' education level, genetic status, sex and sociodemographic status were associated with reported attitudes. This yielded some conflicting findings, indicating the need for further research. Genetic counseling remains essential to support this population in making well-informed decisions. Targeted interventions tailored to specific families with different sociodemographic characteristics may be useful. Further research on the long-term impact of childhood genetic testing on families is warranted.

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.

Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.

Psychological impact of genetic testing for adult-onset disorders. An update for clinicians.

Testing for gene mutations that confer susceptibility to adult-onset disorders has potential benefits, but these must be balanced against the psychological harms, if any. We review published findings on the psychological effects of such testing, focusing on Huntington's disease, which has the most available data, and the hereditary cancer syndromes. Most of the evidence suggests that non-carriers and carriers differ significantly in terms of short-term, but not long-term, psychological adjustment to test results. The psychological impact of genetic testing depends more on pretest psychological distress than the test result itself.

Psychological impact of prophylactic oophorectomy in women at increased risk for ovarian cancer.

Women with a family history consistent with a hereditary breast/ovarian cancer syndrome are at significantly increased risk for ovarian cancer. Prophylactic oophorectomy is an option for high-risk women. This study explores the psychosexual impact of prophylactic oophorectomy. A qualitative methodology was selected as most appropriate as no previous research has examined this issue. In-depth interviews were conducted with fourteen women, between 4 months and 7 years after prophylactic oophorectomy. Of these, six were pre- and eight were postmenopausal at the time of oophorectomy. Even though individual differences were observed, a majority view was expressed on several issues. All but one participant reported being satisfied with their decision to undergo oophorectomy. Women emphasised that the procedure had decreased their anxiety about developing ovarian cancer. Postmenopausal women reported no negative impact on their libido. Amongst premenopausal women all but one commenced hormone replacement therapy (HRT) following surgery and, in these women, HRT appeared to mitigate the sexual impact of the procedure. Premenopausal women reported unmet information needs both before and after the procedure, including the effects of surgical menopause and the link between HRT and breast cancer. This exploratory study suggests that prophylactic oophorectomy is a psychologically acceptable risk reduction strategy in high-risk women.

Malaria infection in underfive children and the use of preventive measures by their mothers in the Njala Area; Moyamba District; Southern Province; Sierra Leone

Four hundred and four children (404) under five year of age from five villages in the Moyamba District; Southern Province of Sierra Leone were examined for malaria parasites. The mean overall prevalence of malaria parasites due to all species was 40.3 per cent. Bonjeima had the highest prevalence rate (56 per cent) and Njala Junction/Mosongo had the lowest (19.7 per cent). Plasmodium falciparum was the predominant species. The 3-3.99 year olds had the highest infection rate due to plasmodium falciparum (43.8 per cent); plasmodium malariae was more common in the 2-2.99 year olds (6.7 per cent) and they also had the highest infection of plasmodium ovale infections (13.8 per cent). Children on prophylactic drugs had the highest prevalence of malaria parasites (36.4 per cent); followed by mosquito net users (34 per cent); insecticide users (26.1 per cent) and those living in houses completely screened from mosquitoes 824.3 per cent)

The incidence of inflammatory papillary hyperplasia.

The incidence of inflammatory papillary hyperplasia was studied in 892 patients from the dental clinic at the Veterans Administration Hospital in Oklahoma City. The patients were selected if they wore dentures that completely covered the palate. A large number of patients with inflammatory papillary hyperplasia were those who left their dentures in their mouths continuously. Therefore, a high correlation was found between the incidence of inflammatory papillary hyperplasia and the amount of time the patient wore the dentures. Although it is not certain if inflammatory papillary hyperplasia is premalignant, the dentist should try to seek to prevent this abnormal condition by instructing patients to leave dentures out of their mouths for a six-to eight-hour period during each day.