30d3d22dfa2db43c5f3a03f5fc733464 pmc_34943558.pdf 21736ef4aa54cd96073f0b701886386f8948f062 pmc_34943558.pdf 9f6b8a6845c449fd86e908af4ce9c412f8a80567b8452e7449fec9ea2ce5ba9a pmc_34943558.pdf Title: Current Status of Genetic Counselling for Rare Diseases in Spain Subject: Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors as healthcare professionals Thus, patients with RD face not only challenges associated with their own disease but also deal with lack of knowledge, uncertainty, and other psychosocial issues arising as a consequence of diagnostic delay. In this review, we highlight the importance of genetic counsellors in the field of RD as well as evaluate the current situation in which rare disease patients receive genetic services in Spain. We describe the main units and strategies at the national level assisting patients with RD and we conclude with a series of future perspectives and unmet needs that Spain should overcome to improve the management of patients with RD. Keywords: genetic counselling; rare diseases; professional recognition Author: Sara Álvaro-Sánchez, Irene Abreu-Rodríguez, Anna Abulí, Clara Serra-Juhe and Maria del Carmen Garrido-Navas Creator: LaTeX with hyperref Producer: pdfTeX-1.40.21 CreationDate: Thu Dec 9 12:57:37 2021 CET ModDate: Thu Dec 9 14:05:59 2021 CET Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 12 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 1162220 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- YXDTOY+VnURWPalladioL-Bold Type 1 Custom yes yes no 10 0 RAFMMA+VnURWPalladioL Type 1 Custom yes yes no 15 0 JIAPPJ+URWPalladioL-Ital Type 1 Custom yes yes no 19 0 LBVXIR+URWPalladioL-Bold Type 1 Custom yes yes no 24 0 XFGYKG+URWPalladioL-Roma Type 1 Custom yes yes no 28 0 BXZUUH+TimesNewRomanPS-BoldItalicMT Type 1C WinAnsi yes yes no 36 0 MCBCCI+SourceSansRoman-Regular Type 1C Custom yes yes no 58 0 MCBCCM+SourceSansRoman.613wght Type 1C Custom yes yes no 62 0 MCBCCO+SourceSansRoman-Bold Type 1C Custom yes yes no 66 0 DNGPJB+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 91 0 DNGPJD+PalatinoLinotype TrueType WinAnsi yes yes no 94 0 DNGPJF+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 97 0 DNHBCN+PalatinoLinotype,BoldItalic TrueType WinAnsi yes yes no 100 0 DNHCPE+Calibri CID TrueType Identity-H yes yes yes 148 0 DNGPJB+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 154 0 DNGPJD+PalatinoLinotype TrueType WinAnsi yes yes no 157 0 DNGPJF+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 160 0 DNHCOD+Calibri,Bold CID TrueType Identity-H yes yes yes 163 0 DNGPJB+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 197 0 DNGPJD+PalatinoLinotype TrueType WinAnsi yes yes no 200 0 DNGPJF+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 203 0 FPWQRR+VnURWPalladioL-Italic Type 1 Custom yes yes no 216 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2023-05-27 02:53:14 CEST RepresentationInformation: pmc_34943558.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2023-03-31 12:06:32 CEST Size: 1162220 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 464 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: The Role of Genetic Counselling for Rare Diseases Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@44c8afef Item: Title: Genetic Services (Including Genetic Counselling) for Rare Diseases in Spain Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7b69c6ba Item: Title: Current Needs and Future Directions of Genetic Counselling for Rare Diseases Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@46daef40 Item: Title: Conclusions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@12f41634 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@13c27452 Info: Title: Current Status of Genetic Counselling for Rare Diseases in Spain Author: Sara Álvaro-Sánchez, Irene Abreu-Rodríguez, Anna Abulí, Clara Serra-Juhe and Maria del Carmen Garrido-Navas Subject: Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors as healthcare professionals Thus, patients with RD face not only challenges associated with their own disease but also deal with lack of knowledge, uncertainty, and other psychosocial issues arising as a consequence of diagnostic delay. In this review, we highlight the importance of genetic counsellors in the field of RD as well as evaluate the current situation in which rare disease patients receive genetic services in Spain. We describe the main units and strategies at the national level assisting patients with RD and we conclude with a series of future perspectives and unmet needs that Spain should overcome to improve the management of patients with RD. 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