title: A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.
abstract: Researchers and clinicians ideally need instant access to all the variation in their gene/locus of interest to efficiently conduct their research and genetic healthcare to the highest standards. Currently much key data resides in the laboratory books or patient records around the world, as there are many impediments to submitting this data. It would be ideal therefore if a semiautomated pathway was available, with a minimum of effort, to make the deidentified data publicly available for others to use. The Human Variome Project (HVP) meeting listed 96 recommendations to work toward this situation. This article is planned to initiate a strategy to enhance the collection of phenotype and genotype data from the clinician/diagnostic laboratory nexus. Thus, the aim is to develop universally applicable forms that people can use when investigating patients for each inherited disease, to assist in satisfying many of the recommendations of the HVP Meeting [Cotton et al., 2007]. We call for comment and collaboration in this article.
authors.affiliation: Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia. cotton@unimelb.edu.au
authors.forename: R G H
authors.initials: RG
authors.lastname: Cotton
authors.forename: A D
authors.initials: AD
authors.lastname: Auerbach
authors.forename: A F
authors.initials: AF
authors.lastname: Brown
authors.forename: P
authors.initials: P
authors.lastname: Carrera
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: J
authors.initials: J
authors.lastname: Compton
authors.forename: D W
authors.initials: DW
authors.lastname: Cox
authors.forename: E
authors.initials: E
authors.lastname: De Baere
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: M
authors.initials: M
authors.lastname: Greenblatt
authors.forename: M
authors.initials: M
authors.lastname: Fujiwara
authors.forename: P
authors.initials: P
authors.lastname: Hilbert
authors.forename: A
authors.initials: A
authors.lastname: Jani
authors.forename: H
authors.initials: H
authors.lastname: Lehvaslaiho
authors.forename: D W
authors.initials: DW
authors.lastname: Nebert
authors.forename: I
authors.initials: I
authors.lastname: Verma
authors.forename: M
authors.initials: M
authors.lastname: Vihinen
mesh_terms: D030541:Databases, Genetic; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D005821:Genetic Techniques; D015894:Genome, Human; D023281:Genomics / Q000592:standards*; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011642:Publications