The Physical Demands of Wheelchair Tennis Match Play: A Systematic Review with Meta-analysis.

BACKGROUND: Wheelchair tennis, a globally popular sport, features a professional tour spanning 40 countries and over 160 tournaments. Despite its widespread appeal, information about the physical demands of wheelchair tennis is scattered across various studies, necessitating a comprehensive systematic review to synthesise available data. OBJECTIVE: The aim was to provide a detailed synthesis of the physical demands associated with wheelchair tennis, encompassing diverse factors such as court surfaces, performance levels, sport classes, and sexes. METHODS: We conducted comprehensive searches in the PubMed, Embase, CINAHL, and SPORTDiscus databases, covering articles from inception to March 1, 2023. Forward and backward citation tracking from the included articles was carried out using Scopus, and we established eligibility criteria following the Population, Exposure, Comparison, Outcome, and Study design (PECOS) framework. Our study focused on wheelchair tennis players participating at regional, national, or international levels, including both juniors and adults, and open and quad players. We analysed singles and doubles matches and considered sex (male, female), sport class (open, quad), and court surface type (hard, clay, grass) as key comparative points. The outcomes of interest encompassed play duration, on-court movement, stroke performance, and physiological match variables. The selected study designs included observational cross-sectional, longitudinal, and intervention studies (baseline data only). We calculated pooled means or mean differences with 95% confidence intervals (CIs) and employed a random-effects meta-analysis with robust variance estimation. We assessed heterogeneity using Cochrane Q and 95% prediction intervals. RESULTS: Our literature search retrieved 643 records, with 24 articles meeting our inclusion criteria. Most available information focused on international male wheelchair tennis players in the open division, primarily competing in singles on hard courts. Key findings (mean [95% CI]) for these players on hard courts were match duration 65.9 min [55.0-78.8], set duration 35.0 min [28.2-43.5], game duration 4.6 min [0.92-23.3], rally duration 6.1 s [3.7-10.2], effective playing time 19.8% [18.9-20.7], and work-to-rest ratio 1:4.1 [1:3.7-1:4.4]. Insufficient data were available to analyse play duration for female players. However, for the available data on hard court matches, the average set duration was 34.8 min [32.5-37.2]. International male players on hard court covered an average distance per match of 3859 m [1917-7768], with mean and peak average forward speeds of 1.06 m/s [0.85-1.32] and 3.55 m/s [2.92-4.31], respectively. These players executed an average of 365.9 [317.2-422.1] strokes per match, 200.6 [134.7-299.0] per set, 25.4 [16.7-38.7] per game, and 3.4 [2.6-4.6] per rally. Insufficient data were available for a meta-analysis of female players' on-court movement and stroke performance. The average and peak heart rates of international male players on hard court were 134.3 [124.2-145.1] and 166.0 [132.7-207.6] beats per minute, and the average match heart rate expressed as a percentage of peak heart rate was 74.7% [46.4-100]. We found no studies concerning regional players or juniors, and only one study on doubles match play. CONCLUSIONS: While we present a comprehensive overview of the physical demands of wheelchair tennis, our understanding predominantly centres around international male players competing on hard courts in the open division. To attain a more comprehensive insight into the sport's physical requirements, future research should prioritise the inclusion of data on female and quad players, juniors, doubles, and matches played on clay and grass court surfaces. Such endeavours will facilitate the development of more tailored and effective training programmes for wheelchair tennis players and coaches. The protocol for this systematic review was registered a priori at the International Platform of Registered Systematic Review and Meta-analysis Protocols (Registration https://doi.org/10.37766/inplasy2023.3.0060 ).

Predictive Value of SLCO1B1 c.521T>C Polymorphism on Observed Changes in the Treatment of 1136 Statin-Users.

Pharmacogenomic testing is a method to prevent adverse drug reactions. Pharmacogenomics could be relevant to optimize statin treatment, by identifying patients at high risk for adverse drug reactions. We aim to investigate the clinical validity and utility of pre-emptive pharmacogenomics screening in primary care, with SLCO1B1 c.521T>C as a risk factor for statin-induced adverse drug reactions. The focus was on changes in therapy as a proxy for adverse drug reactions observed in statin-users in a population-based Dutch cohort. In total, 1136 statin users were retrospectively genotyped for the SLCO1B1 c.521T>C polymorphism (rs4149056) and information on their statin dispensing was evaluated as cross-sectional research. Approximately half of the included participants discontinued or switched their statin treatment within three years. In our analyses, we could not confirm an association between the SLCO1B1 c.521T>C genotype and any change in statin therapy or arriving at a stable dose sooner in primary care. To be able to evaluate the predictive values of SLCO1B1 c.521T>C genotype on adverse drug reactions from statins, prospective data collection of actual adverse drug reactions and reasons to change statin treatment should be facilitated.

Physical Demands of Tennis Across the Different Court Surfaces, Performance Levels and Sexes: A Systematic Review with Meta-analysis.

BACKGROUND: Tennis is a multidirectional high-intensity intermittent sport for male and female individuals played across multiple surfaces. Although several studies have attempted to characterise the physical demands of tennis, a meta-analysis is still lacking. OBJECTIVE: We aimed to describe and synthesise the physical demands of tennis across the different court surfaces, performance levels and sexes. METHODS: PubMed, Embase, CINAHL and SPORTDiscus were searched from inception to 19 April, 2022. A backward citation search was conducted for included articles using Scopus. The PECOS framework was used to formulate eligibility criteria. POPULATION: tennis players of regional, national or international playing levels (juniors and adults). EXPOSURE: singles match play. Comparison: sex (male/female), court surface (hard, clay, grass). OUTCOME: duration of play, on-court movement and stroke performance. STUDY DESIGN: cross-sectional, longitudinal. Pooled means or mean differences with 95% confidence intervals were calculated. A random-effects meta-analysis with robust variance estimation was performed. The measures of heterogeneity were Cochrane Q and 95% prediction intervals. Subgroup analysis was used for different court surfaces. RESULTS: The literature search generated 7736 references; 64 articles were included for qualitative and 42 for quantitative review. Mean [95% confidence interval] rally duration, strokes per rally and effective playing time on all surfaces were 5.5 s [4.9, 6.3], 4.1 [3.4, 5.0] and 18.6% [15.8, 21.7] for international male players and 6.4 s [5.4, 7.6], 3.9 [2.4, 6.2] and 20% [17.3, 23.3] for international female players. Mean running distances per point, set and match were 9.6 m [7.6, 12.2], 607 m [443, 832] and 2292 m [1767, 2973] (best-of-5) for international male players and 8.2 m [4.4, 15.2], 574 m [373, 883] and 1249 m [767, 2035] for international female players. Mean first- and second-serve speeds were 182 km·h-1 [178, 187] and 149 km·h-1 [135, 164] for international male players and 156 km·h-1 95% confidence interval [151, 161] and 134 km·h-1 [107, 168] for international female players. CONCLUSIONS: The findings from this study provide a comprehensive summary of the physical demands of tennis. These results may guide tennis-specific training programmes. We recommend more consistent measuring and reporting of data to enable future meta-analysts to pool meaningful data. CLINICAL TRIAL REGISTRATION: The protocol for this systematic review was registered a priori at the Open Science Framework (Registration DOI https://doi.org/10.17605/OSF.IO/MDWFY ).

Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20.

With innovations in both the screening methodologies and treatment of diseases, newborn screening (NBS) programmes are confronted with an increasing number of candidate diseases [...].

Associations between partial foot amputation level, gait parameters, and minimum impairment criteria in para-sport: A research study protocol.

Altered biomechanics due to amputation can contribute to substantial limitations, influencing sporting activities. Individuals with lower extremity amputations or congenital lower limb deficiency are encouraged to participate in para-sports. However, to compete in Paralympic sports, the candidate must have an impairment that results in lower extremity loss of function and meets or exceeds the sport's minimum impairment criteria (MIC). This review will focus on the MIC for competitive wheelchair tennis. Limb deficiency is known as one of the MIC used to regulate participation in competitive para-sports since it impacts gait, kinematics, and biomechanics of both the upper and lower body. Notwithstanding, it is questionable whether the MIC concerning limb deficiency is set at the correct level for determining eligibility for participating in Paralympic sports. This study aims to provide an overview of the evidence examining the impact of different partial foot amputation (PFA) levels on gait as a proxy for sporting performance. This scoping review will be based on a 6-step methodological framework and Preferred Reporting Items for Systematic Reviews and Meta-Analysis, extension for scoping reviews (PRISMA-ScR). Studies will be selected from PubMed, Embase, CINAHL, and SPORTDiscus. Two authors will screen the titles/abstracts independently. Selected studies will be scrutinised, and the same authors will extract data. Findings will be relevant to informing the evidence-based development of MIC for lower limb impairment after PFA and may be extrapolated to specific Paralympic sports, including wheelchair tennis. Results will be disseminated through scientific publications and conferences to audiences interested in Paralympic sports.

Pursuing Public Health Benefit Within National Genomic Initiatives: Learning From Different Policies.

Introduction: Population-based genomic research is expected to deliver substantial public health benefits. National genomics initiatives are widespread, with large-scale collection and research of human genomic data. To date, little is known about the actual public health benefit that is yielded from such initiatives. In this study, we explore how public health benefit is being pursued in a selection of national genomics initiatives. Methods: A mixed-method study was carried out, consisting of a literature-based comparison of 11 purposively sampled national genomics initiatives (Belgium, Denmark, Estonia, Finland, Germany, Iceland, Qatar, Saudi Arabia, Taiwan, United Kingdom (UK), and United States (USA)), and five semi-structured interviews with experts (Denmark, Estonia, Finland, UK, USA). It was analyzed to what extent and how public health benefit was pursued and then operationalized in each phase of an adapted public health policy cycle: agenda setting, governance, (research) strategy towards health benefit, implementation, evaluation. Results: Public health benefit within national genomics initiatives was pursued in all initiatives and also operationalized in all phases of the public health policy cycle. The inclusion of public health benefit in genomics initiatives seemed dependent on the outcomes of agenda setting, such as the aims and values, as well as design of governance, for example involved actors and funding. Some initiatives focus on a research-based strategy to contribute to public health, while others focus on research translation into healthcare, or a combination of both. Evaluation of public health benefits could be performed qualitatively, such as assessing improved public trust, and/or quantitatively, e.g. research output or number of new diagnoses. However, the created health benefit for the general public, both short- and long-term, appears to be difficult to determine. Conclusion: Genomics initiatives hold the potential to deliver health promises of population-based genomics. Yet, universal tools to measure public health benefit and clarity in roles and responsibilities of collaborating stakeholders are lacking. Advancements in both aspects will help to facilitate and achieve the expected impact of genomics initiatives and enable effective research translation, implementation, and ultimately improved public health.

Association between the level of partial foot amputation and gait: a scoping review with implications for the minimum impairment criteria for wheelchair tennis.

OBJECTIVE: This scoping review examines how different levels and types of partial foot amputation affect gait and explores how these findings may affect the minimal impairment criteria for wheelchair tennis. METHODS: Four databases (PubMed, Embase, CINAHL and SPORTDiscus) were systematically searched in February 2021 for terms related to partial foot amputation and ambulation. The search was updated in February 2022. All study designs investigating gait-related outcomes in individuals with partial foot amputation were included and independently screened by two reviewers based on Arksey and O'Malley's methodological framework and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews. RESULTS: Twenty-nine publications with data from 252 participants with partial foot amputation in 25 studies were analysed. Toe amputations were associated with minor gait abnormalities, and great toe amputations caused loss of push-off in a forward and lateral direction. Metatarsophalangeal amputations were associated with loss of stability and decreased gait speed. Ray amputations were associated with decreased gait speed and reduced lower extremity range of motion. Transmetatarsal amputations and more proximal amputations were associated with abnormal gait, substantial loss of power generation across the ankle and impaired mobility. CONCLUSIONS: Partial foot amputation was associated with various gait changes, depending on the type of amputation. Different levels and types of foot amputation are likely to affect tennis performance. We recommend including first ray, transmetatarsal, Chopart and Lisfranc amputations in the minimum impairment criteria, excluding toe amputations (digits two to five), and we are unsure whether to include or exclude great toe, ray (two to five) and metatarsophalangeal amputations. TRIAL REGISTRATION: The protocol of this scoping review was previously registered at the Open Science Framework Registry (https://osf.io/8gh9y) and published.

Design of a Tennis-Specific Agility Test (TAT) for Monitoring Tennis Players.

Agility is an important ability for tennis players. To be successful in the rallies, players must perform rapid, multidirectional movements in response to the ball and/or the position of the opponent. For a test to be representative in monitoring agility performance, it should capture a combination of the physical and cognitive agility performance. Considering that literature reports no reliable and valid sport-specific agility test for tennis, the aim of this article was to design and evaluate the measurement properties of a Tennis-specific Agility Test (TAT). To evaluate the TAT, test-retest reliability, concurrent validity, and feasibility were assessed. For reproducibility, a two-way mixed ANOVA was performed. Concurrent validity was assessed using Pearson correlations. A total of 69 tennis players participated in this study of whom 16 competed at the international (22 ± 3.7 years, playing level (Dynamic Rating System): .8 ± .3), 43 at the national (14 ± 1.4 years, playing level: 4.6 ± 1.4), and 10 at the regional level (15 ± 0.8 years, playing level: 4.9 ± 1.1). Test-retest reliability was found to be moderate with an Intra-Class Correlation coefficient (ICC) of .74 (p < .01) and a percentual minimal detectable change (%MDC) of 6.2%. Concurrent validity was found to be moderate by comparison with a recognised agility test, the Spider Drill, which measures only the physical component (.70; p < .01), and by comparison with tennis performance for both boys (r = .67; p < .01) and girls (r = .72; p < .01). The feasibility was high with short time for preparation (five to ten minutes) and time per participant (<5 minutes). In conclusion, the TAT shows promising results for assessing sport-specific agility performance in tennis making it likely to be used in the practical setting.

Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective.

Neonatal bloodspot screening (NBS) aims to detect treatable disorders in newborns. The number of conditions included in the screening is expanding through technological and therapeutic developments, which can result in health gain for more newborns. NBS expansion, however, also poses healthcare, ethical and societal challenges. This qualitative study explores a multi-stakeholders' perspective on current and future expansions of NBS. Semi-structured interviews were conducted with 22 Dutch professionals, including healthcare professionals, test developers and policy makers, and 17 parents of children with normal and abnormal NBS results. Addressed themes were (1) benefits and challenges of current expansion, (2) expectations regarding future developments, and (3) NBS acceptance and consent procedures. Overall, participants had a positive attitude toward NBS expansion, as long as it is aimed at detecting treatable disorders and achieving health gain. Concerns were raised regarding an increase in results of uncertain significance, diagnosing asymptomatic mothers, screening of subgroups ("males only"), finding untreatable disorders, along with increasingly complex consent procedures. Regarding the scope of future NBS expansions, two types of stakeholder perspectives emerged. Stakeholders with a "targeted-scope" perspective saw health gain for the neonate as the exclusive NBS aim. They thought pre-test information could be limited, and parents should be protected against too much options or information. Stakeholders with a "broad-scope" perspective thought the NBS aim should be formulated broader, for example, also taking (reproductive) life planning into account. They put more emphasis on individual preferences and parental autonomy. Policy-makers should engage with both perspectives when making further decisions about NBS.

Informing Parents about Newborn Screening: A European Comparison Study.

Knowledge about newborn screening (NBS) is an important factor for parents to make an informed decision about participation. In Europe, countries inform parents differently about their NBS program, potentially including different knowledge aspects in their information. The aim of this study was to assess twenty-six European parental information products and to analyze their knowledge aspects through a content analysis. The analyzed aspects were compared to a list of eight knowledge aspects from scientific literature. The list includes aspects important for parents' decision-making, such as the purpose of screening. The study showed that most of the eight knowledge aspects are included in NBS information products of the majority of countries. However, there were differences between countries, for example in the amount of detail and phrasing of the information. Additional relevant knowledge aspects have also been identified and are recommended to optimize information products, such as the handling of residual bloodspot samples. This study only assessed knowledge aspects in information products meant for printing, but many countries also use other communication methods, and the impact on knowledge of the delivery of the information needs further study. Preferences of parents on alternative communication methods need to be considered and evaluated on their effectiveness.

Expanded Neonatal Bloodspot Screening Programmes: An Evaluation Framework to Discuss New Conditions With Stakeholders.

Neonatal bloodspot screening (NBS) programmes that screen for rare but serious conditions are expanding worldwide. Fast developments for testing and treatment put pressure on implementation processes. In 2015 the Netherlands embarked on an NBS expansion from 17 to 31 conditions. An evaluation framework was developed based on international NBS frameworks to gain insight in test properties, clinical findings, follow-up and implementation. A stakeholder process took place with implications for the planning of the expanded NBS panel. The evaluation framework progressed into a go/no go framework to start national screening, and is currently explored as basis for continuous evaluation of the NBS panel. The framework and stakeholder process may serve as an example for other programmes.

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.

Screening for rare diseases first began more than 50 years ago with neonatal bloodspot screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle cell anaemia and ß-thalassaemia. NBS's primary aim is health gain for children, while carrier screening enables autonomous reproductive choice. While screening can be beneficial, it also has the potential to cause harm and thus decisions are needed on whether a specific screening is worthwhile. These decisions are usually based on screening principles and criteria. Technological developments, both treatment driven and test driven, have led to expansions in neonatal screening and carrier screening. This article demonstrates how the dynamics and expansions in NBS and carrier screening have challenged four well-known screening criteria (treatment, test, target population and programme evaluation), and the decision-making based on them. We show that shifting perspectives on screening criteria for NBS as well as carrier screening lead to converging debates in these separate fields. For example, the child is traditionally considered to be the beneficiary in NBS, but the family and society can also benefit. Vice versa, carrier screening may be driven by disease prevention, rather than reproductive autonomy, raising cross-disciplinary questions regarding potential beneficiaries and which diseases to include. In addition, the stakeholders from these separate fields vary: Globally NBS is often governed as a public health programme while carrier screening is usually available via medical professionals. The article concludes with a call for an exchange of vision and knowledge among all stakeholders of both fields to attune the dynamics of screening.

Regulatory landscape of providing information on newborn screening to parents across Europe.

Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level.

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

PURPOSE: While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if high-quality test methods and follow-up care are available, public uptake and parental acceptance are not guaranteed. The aim of this study was to describe the parental perspective on NBS for SCID in the context of an implementation pilot. Psychosocial aspects have never been studied before for NBS for SCID and are important for societal acceptance, a major criterion when introducing new disorders in NBS programs. METHODS: To evaluate the perspective of parents, interviews were conducted with parents of newborns with abnormal SCID screening results (N = 17). In addition, questionnaires about NBS for SCID were sent to 2000 parents of healthy newborns who either participated or declined participation in the SONNET-study that screened 140,593 newborns for SCID. RESULTS: Support for NBS for SCID was expressed by the majority of parents in questionnaires from both a public health perspective and a personal perspective. Parents emphasized the emotional impact of an abnormal screening result in interviews. (Long-term) stress and anxiety can be experienced during and after referral indicating the importance of uniform follow-up protocols and adequate information provision. CONCLUSION: The perspective of parents has led to several recommendations for NBS programs that are considering screening for SCID or other disorders. A close partnership of NBS programs' stakeholders, immunologists, geneticists, and pediatricians-immunologists in different countries is required for moving towards universal SCID screening for all infants.

Implementation of Pharmacogenetics in Primary Care: A Multi-Stakeholder Perspective.

INTRODUCTION: Aberrant pharmacogenetic variants occur in a high proportion of people and might be relevant for the prescription of over 26 drugs in primary care. Early identification of patients who metabolize these drugs more rapidly or slowly than average could predict therapeutic effectivity and safety. Yet implementation of pharmacogenetics is progressing slowly. A high public health impact can potentially be achieved by increasing the proportion of people tested, when and where eligible according to clinical validity and utility. METHODS: In this study we defined actions, roles, and responsibilities for implementation of pharmacogenetics in primary care in consultation with stakeholder groups, by using a three-step mixed-methods approach. First, to define barriers and facilitators, public pharmacists (n = 24), primary care physicians (n = 8), and patients (n = 21) participated in focus groups and face-to-face interviews. Second, a multidisciplinary expert meeting (n = 16) was organized to define desired actions, roles, and responsibilities. Third, an online Delphi Study (n = 18) was conducted to prioritize the designated actions. RESULTS: For the integration of pharmacogenetics in primary care guidelines and practice, lack of evidence for clinical utility was mentioned as a main barrier. Furthermore, reimbursement, and facilitation of data registration and sharing were considered as key elements for future routine application of pharmacogenetic testing. Moreover, the division of roles and responsibilities, especially between general practitioners and pharmacists, is currently perceived as unclear. Sixteen actions in these four areas (clinical utility, reimbursement, data registration and sharing, and roles and responsibilities) were formulated and assigned to specific actors during the expert meeting. After ranking these 16 actions in the Delphi Study, nine actions remained pertinent, covering the four areas with at least one action. However, participants showed low agreement on the prioritization of the different actions, illustrating their different perspectives and the need to attune between them. DISCUSSION: Stakeholders together were able to formulate required actions to achieve true integration of pharmacogenetics in primary care, but no consensus could be achieved on the prioritization of the actions. Coordination of the current independent initiatives by the different stakeholders could facilitate effective and efficient implementation of useful pharmacogenetics in primary care.

Parental perspectives on retention and secondary use of neonatal dried bloodspots: a Dutch mixed methods study.

BACKGROUND: Neonatal bloodspot screening (NBS) identifies conditions to offer early intervention and minimize irreversible damage. NBS policies guide a comprehensive system including processes for storage of neonatal dried blood spots (NDBS). NDBS retention and secondary use policies have been subject of public debates internationally, suggesting that the public's perceptions of NDBS policy are not always on par with existing policies. The current study aims to provide insight in relevant factors for new parents in the Netherlands regarding retention and secondary use of NDBS. These factors can be taken into account when developing or updating NDBS policies. METHODS: A mixed methods design was used combining an online survey (n = 753), focus groups (6 groups, 37 participants), and individual in-depth interviews (n = 7). The discussed topics included: parental information, obtaining informed consent, support for retention, and support for secondary use. The study population consisted of Dutch-speaking new parents: pregnant women (≥20 weeks) and/or their partner, and parents of at least one child (≤5 years). RESULTS: New parents expressed needs for easily accessible information, adequate communication on the retention and (potential) use of NDBS, clearly described safeguards for privacy, a more active consent process, regulation for the actors conducting NDBS research, and parental involvement in decisions on secondary use. Overall, participants were positive about prolonged retention and different types of secondary use if those needs were met. CONCLUSIONS: While parental involvement is a challenge, our study is an example of gauging parent's perspectives on NDBS policy and contributes to including these perspectives in the current policy discussion on longer retention. Prolonged retention could be a feasible option in the Netherlands if several prerequisites are met. Therefore, implementation studies involving parents are needed.

Review of the Reported Measures of Clinical Validity and Clinical Utility as Arguments for the Implementation of Pharmacogenetic Testing: A Case Study of Statin-Induced Muscle Toxicity.

Advances from pharmacogenetics (PGx) have not been implemented into health care to the expected extent. One gap that will be addressed in this study is a lack of reporting on clinical validity and clinical utility of PGx-tests. A systematic review of current reporting in scientific literature was conducted on publications addressing PGx in the context of statins and muscle toxicity. Eighty-nine publications were included and information was selected on reported measures of effect, arguments, and accompanying conclusions. Most authors report associations to quantify the relationship between a genetic variation an outcome, such as adverse drug responses. Conclusions on the implementation of a PGx-test are generally based on these associations, without explicit mention of other measures relevant to evaluate the test's clinical validity and clinical utility. To gain insight in the clinical impact and select useful tests, additional outcomes are needed to estimate the clinical validity and utility, such as cost-effectiveness.

The attitudes of Dutch fertility specialists towards the addition of genetic testing in screening of tubal factor infertility.

BACKGROUND: This study aims to identify elements perceived by Dutch fertility specialists as barriers and facilitators for the introduction of genetic testing, and their attitudes towards the use of genetic information. The genetic test would be implemented in routine screening for tubal pathology and identifies SNPs relevant for the immune response causing tubal pathology. METHODS: Experienced reproductive specialists working in Dutch Academic Hospitals were interviewed. Based on the results of four interviews a questionnaire was developed and used to survey medical doctors in six out of eight Dutch Academic hospitals. RESULTS: 60.4% (n=91) stated that the addition of genetic markers to the Chlamydia trachomatis antibody test (CAT) in screening for tubal pathology would increase screening accuracy. 68.2% (n=90) agreed they would require additional training on clinical genetics. Clinical utility (91.2%, n=91) and cost-effectiveness (95.6%, n=91) were recognized by the respondents as important factors in gaining support for the new screening strategy. CONCLUSION: In summary, respondents showed a positive attitude towards the implementation of a genetic test combined with CAT for tubal factor infertility (TFI) screening. To gain their support the majority of respondents agreed that clinical utility, specifically cost-effectiveness, is an important factor. Comprehensive research about economic implications and utility regarding the introduction of genomic markers should be the next step in the implementation strategy. Furthermore, education and training would need to be developed and offered to fertility care professionals about genetic markers, their interpretation, and implications for clinical decision-making.

Policy Making in Newborn Screening Needs a Structured and Transparent Approach.

PURPOSE: Newborn bloodspot screening (NBS) programs have expanded significantly in the past years and are expected to expand further with the emergence of genetic technologies. Historically, NBS expansion has often occurred following ad hoc consideration of conditions, instead of a structured and transparent approach. In this review, we explore issues pertinent to NBS policy making, through the lens of the policy cycle: (a) agenda setting, (b) policy advice, (c) policy decision, (d) implementation, and (e) evaluation. METHODS: A literature search was conducted to gather information on the elements specific to NBS and its policy making process. RESULTS: The review highlighted two approaches to nominate a condition: a structured approach through horizon scanning; and an ad hoc process. For assessment of a condition, there was unanimous support for a robust process based on criteria. While the need to assess harms and benefits was a repeated theme in the articles, there is no agreed-upon threshold for benefit in decision-making. Furthermore, the literature was consistent in its recommendation for an overarching, independent, multidisciplinary group providing recommendations to government. An implementation plan focusing on the different levels on which NBS operates and the information needed on each level is essential for successful implementation. Continuously monitoring, and improving a program is vital, particularly following the implementation of screening for a new condition. An advisory committee could advise on implementation, development, review, modification, and cessation of (parts of) NBS. CONCLUSION: The results highlight that there are a wave of issues facing NBS programs that policy makers must take into account when developing policy processes. What conditions to screen, and the technologies used in NBS, are both up for debate.