scholarly journals Cost-Effectiveness of Autism Diagnostic Based on Genetic Testing

Author(s):  
Wolfgang Rudolph-Rothfeld ◽  
Reinhard Vonthein

Abstract Background: Autism Spectrum Disorder (ASD) is a highly heritable polygenetic disorder with several degrees of handicap.Novel genetic diagnostics for Autism Spectrum Disorder promise an earlier diagnosis than psychometric diagnostics, but their cost-effectiveness is unproven.Objective: To model the clinical pathway from diagnosis to early intervention (EI) and outcome in scenarios with genetic diagnostics compared to just psychometric diagnosis that follows a current guideline (Status Quo). Methods: Early diagnosis based on genetic testing leads to more intensive and effective early intervention. Future scenarios assume genetic screening(Screening), genetic testing on request(GenADD), or genetic testing in cases with a family history of ASD(Predisposition). Simulations on Markov models using software TreeAge v. 2018 and parameters found in the literature. The time horizon reached from birth to the 15th year of life with cycle length 1 year. The models were stratified by autism severity, i.e. IQ initially below 70 or above. Effectiveness was both, dependency free life years (DFLY) gained by correct diagnosis and successful treatment, and the number of diagnosed patients that became independent after treatment. We choose the insurance view. Just direct costs for diagnostics and treatment were considered. Probabilistic sensitivity analyses (PSA) explore assumptions of different parameters, like the sensitivity of the genetic test, using the precisions stated in the literature or possible future developments. Results: Status Quo is the most cost-effective scenario with the current parameter values. The other scenarios follow in the order of Predisposition, GenADD, and Screening. All scenarios with genetic tests have a higher number of detection than Status Quo. Intensified early intervention may be cost effective with horizon 67 years. The currently high false positive rate of genetic testing might be detrimental to that. Discussion: Low precision of published parameter estimates led to wide confidence intervals for our estimates of cost-effectiveness. Our model shows that Screening and GenADD should not be an option for inaccurate genetic tests. Once they are more accurate, the potential of early intervention may unfold.Conclusion: Further evaluations with better data need to underpin the current results.

2017 ◽  
Vol 56 (03) ◽  
pp. 268-273 ◽  
Author(s):  
Wolfgang Rudolph-Rothfeld ◽  
Reinhard Vonthein ◽  
Andreas Ziegler

Summary Background: Autism Spectrum Disorder (ASD) is a highly heritable neural development disorder characterized by social impairment. The earlier the diagnosis is made, the higher are the chances of obtaining relief of symptoms. A very early diagnosis uses molecular genetic tests, which are also offered commercially. Objective: Systematic review of the economic impact of genetic tests in ASD. Methods: We performed a systematic search of databases Pubmed, Medline, Cochrane, Econlit and the NHS Center for Reviews and Dissemination for articles in English and German from January 1, 2000 to December 31, 2015. Original articles published in peer- reviewed journals were screened in a two- step process. First, we focused our search on economic evaluations of genetic tests for ASD. Second, we searched for any economic evaluation (EE) of genetic tests. Results: We identified 185 EE of genetic tests for various diseases. However, not a single EE of genetic tests has been found for ASD. The outcomes used in the EE of the genetic tests were heterogeneous, and results were generally not comparable. Conclusion: There is no evidence for cost-effectiveness of any genetic diagnostic test for ASD, although such genetic tests are available commercially. Cost-effectiveness analyses for genetic diagnostic tests for ASD are urgently required. There is a clear lack in research for EE of genetic tests.


2016 ◽  
Vol 9 (10) ◽  
pp. 128 ◽  
Author(s):  
Faihan Alotaibi ◽  
Nabil Almalki

<p class="apa">The present study sought to examine parents’ perceptions of early interventions and related services for children with autism spectrum disorder (ASD) in Saudi Arabia. In this study a survey was distributed to a sample of 80 parents with children who have ASD. Parents also were asked open-ended questions to enable them to provide suggestions. The findings indicate that parents have varying perceptions of early interventions and related services. However, they seem to agree that these services are important in assisting their children. Accordingly, parents have suggested that the government needs to increase these services by providing more centers for children with ASD in Saudi Arabia, providing more specialists to deal with children with ASD, promoting inclusion in regular schools and providing more information on early intervention.</p>


Author(s):  
Jean-François Lemay ◽  
Shauna Langenberger ◽  
Scott McLeod

Abstract Background The Alberta Children’s Hospital-Autism Spectrum Disorder Diagnostic Clinic (ACH-ASDC) was restructured due to long wait times and unsustainable clinic workflow. Major changes included the initiation of pre- and post-ASD parent education sessions and distinct ASD screening appointments before the ASD diagnostic appointment. Methods We conducted a parental program evaluation in summer 2018 of the ACH-ASDC. We used a cross-sectional survey to evaluate key outcomes including parental satisfaction, and the percentage of families obtaining access to government supports and early intervention programs. Results For the 101 eligible patients diagnosed with ASD under 36 months of age 70 (69.3%) parents agreed to participate. The mean diagnostic age of the children diagnosed with ASD was 30.6 months (SD=4.1 months). There were no statistically significant age differences between biological sexes. Ninety-three per cent of parents felt that ASD educational sessions were useful, and 92% of parents were satisfied to very satisfied with the overall ASD diagnostic process. Ninety per cent of parents had access to at least one of the key resources available for ASD early intervention in our province following diagnosis. Parents reported a positive impact on intervention provided to their child in the areas of communication, social interaction, and behaviour. Conclusion Parents of children diagnosed with ASD expressed a high level of satisfaction with the restructured ACH-ASDC process. Implementing parent education sessions was well received and met parents’ needs. Parents were able to access intervention services following diagnosis and reported positive impacts for their child. Re-envisioning program approaches to incorporate novel strategies to support families should be encouraged.


Author(s):  
Preeti Kandasamy ◽  
Harshini Manohar

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder, with increasing prevalence globally. Early intervention has been shown to improve the core deficits and result in a favorable outcome in children with ASD. Various interventional methods, novel mechanisms, and approaches are being widely researched. Though accelerating interventional research in ASD is observed globally, evidence from Indian setting is sparse. Given the uniqueness of cultural, socio-economic conditions, population statistics, existing health care and referral system, it is pivotal to develop and test interventional methods that are applicable and acceptable to the indigenous population. This paper reviews the currently available evidence-based treatment modalities in the Indian settings, with a specific focus on the behavioral interventions. Early diagnosis is seldom seen to translate into early intervention. In the background of the existing challenges, strategies to translate research into practice in terms of developing sustainable methods of service delivery, capacity building, training of trainers, need for liaison between experts and role of health care policy makers are discussed. Improving awareness among parents, medical professionals and stakeholders is the first step forward, towards translating research into practice.


2021 ◽  
Vol 27 (1) ◽  
pp. 23-32
Author(s):  
CATE TREISE ◽  
CAROLINE SIMMONS ◽  
NICOLA MARSHALL ◽  
MICHELLE PAINTER ◽  
JESUS PEREZ

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