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• W2015580548 abstract "The clinician investigating a child with developmental delay has limited investigative tools, and economic costs escalate as clinicians order multiple tests with limited diagnostic yield.1 Global screening tests (single tests that identify several different genetic disorders) have the best diagnostic yield. Tests such as chromosome analysis, metabolic and TORCH screens, and brain imaging have remained the mainstay of the work-up of the child with developmental delay. If these tests are negative, and a genetic cause is likely, the clinician is faced with testing for numerous different single gene disorders (e.g. fragile X, Rett syndrome), each test with a very poor diagnostic yield (<1%) and a mounting economic cost. Microarray technology offers the first new global screening test in decades that has a significant diagnostic yield, for use in the investigation of children with developmental delay. It is now a routine investigation in most western countries. Microarrays offer a much higher diagnostic yield (15–20%) than a G-banded karyotype (∼3%), for genetic testing of individuals with unexplained developmental delay, primarily because of their higher sensitivity to submicroscopic deletions and duplications.2 Whilst the cost of array testing was prohibitive initially, the costs are now lower and the test is not only affordable but also cost saving as, in many cases, it achieves an earlier diagnosis. A positive result on array testing removes the need for second line diagnostic investigations, including invasive investigations such as brain imaging and muscle biopsy. Ultimately, microarrays should result in fewer hospital appointments and fewer additional (now unnecessary) diagnostic investigations. These ‘hidden’ benefits are difficult to cost for several reasons: (1) Doctors differ, between hospitals let alone between countries, in their ordering of first and second line investigations. The more first line investigations ordered the less financial benefit arrays will bring. (2) Some children with an array abnormality may still require additional investigations (e.g. brain imaging) if they develop a focal neurological disorder; it is difficult to estimate how many MRIs can be realistically avoided. (3) While it is routine for paediatricians to order fragile X testing at initial assessment, in time it is hoped that these requests will only be activated should the array be normal. (4) Many benign copy number variants (CNVs) will be identified and it will require parental analysis to confirm the benign nature of a CNV. This will add to the overall costs but not remove additional costs as the patient will remain undiagnosed and will continue to be investigated. (5) It is difficult to estimate how many hospital appointments will be avoided as these children will still require support in the long term from health care providers. (6) The majority of children will test negative on array and these will still need further investigation. However, there are indisputable benefits associated with achieving a diagnosis. Lenhard3 noted that ‘the value of genetic diagnosis of infantile disabilities encompasses significant and long-lasting emotional relief for the parents’. Trakadis and Shevell4 in their analysis estimate the cost benefits of array analysis as a first line genetic test and find that array testing is cost-effective. This is good news for those of us struggling to persuade health authorities to support the setting up of diagnostic arrays. Array testing has such a huge diagnostic yield that its introduction is inevitable whether or not the economics make sense. Doctors like making diagnoses, it is their job. The search for a diagnosis remains life-long for many parents. The parents of older children (who were investigated before the development of array testing) are demanding that their child get the ‘new gene test’. Whatever the economic benefit, the emotional benefit to the family in establishing a diagnosis cannot be underestimated." @default.
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• W2015580548 date "2011-08-16" @default.
• W2015580548 modified "2023-09-27" @default.
• W2015580548 title "What price a diagnosis?" @default.
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• W2015580548 doi "https://doi.org/10.1111/j.1469-8749.2011.04085.x" @default.
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