The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era
Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is evidence that early diagnosis and therapeutic inte...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423008348 |
| _version_ | 1797341934672412672 |
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| author | Eulàlia Rovira-Moreno Anna Abulí Patricia Muñoz-Cabello Marta Codina-Solà Eva Baillès Mencía de Lemus Basil T. Darras Eduardo F. Tizzano |
| author_facet | Eulàlia Rovira-Moreno Anna Abulí Patricia Muñoz-Cabello Marta Codina-Solà Eva Baillès Mencía de Lemus Basil T. Darras Eduardo F. Tizzano |
| author_sort | Eulàlia Rovira-Moreno |
| collection | DOAJ |
| description | Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is evidence that early diagnosis and therapeutic intervention contribute toward better outcomes for these patients. The implementation of SMA newborn screening allows presymptomatic diagnosis leading to new communication scenarios, which poses opportunities and challenges when discussing possible treatment and evolution with families. Communication skills are essential to transmit accurate and comprehensive information to promote better coping and facilitate shared treatment decisions considering patient, family, and physicians’ points of view. The role of professionals is increasing as patients live longer and present evolving phenotypes. Therefore, multidisciplinary follow-up has emerged as an essential component of the standard of care protocol for patients with SMA. On the other hand, issues regarding communication of the diagnosis to a new patient still deserve a thorough discussion to better accommodate the complexity of the different situations. We present this review as a cross-cutting perspective involving health care practitioners, genetic counselors, psychologists, and caregivers to further elaborate and guide the communication process of an SMA diagnosis under several settings. |
| first_indexed | 2024-03-08T10:26:10Z |
| format | Article |
| id | doaj.art-f8742aa22bde4db0a7bae2b364dd1ee9 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:26:10Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-f8742aa22bde4db0a7bae2b364dd1ee92024-01-27T07:13:41ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100825The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic eraEulàlia Rovira-Moreno0Anna Abulí1Patricia Muñoz-Cabello2Marta Codina-Solà3Eva Baillès4Mencía de Lemus5Basil T. Darras6Eduardo F. Tizzano7Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d’Hebron, Barcelona, Spain; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d’Hebron, Barcelona, Spain; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d’Hebron, Barcelona, Spain; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d’Hebron, Barcelona, Spain; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]Department of Psychiatry, University Hospital Vall d’Hebron, Barcelona, SpainPatient Representative, Head of FundAME, Spain & Delegate of SMA Europe e. V., Freiburg, GermanyDepartment of Neurology, Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, MADepartment of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d’Hebron, Barcelona, Spain; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]; Correspondence and requests for materials should be addressed to Eduardo F. Tizzano, Department of Clinical and Molecular Genetics, Hospital Vall d’Hebron, 08035 Barcelona, Spain.Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is evidence that early diagnosis and therapeutic intervention contribute toward better outcomes for these patients. The implementation of SMA newborn screening allows presymptomatic diagnosis leading to new communication scenarios, which poses opportunities and challenges when discussing possible treatment and evolution with families. Communication skills are essential to transmit accurate and comprehensive information to promote better coping and facilitate shared treatment decisions considering patient, family, and physicians’ points of view. The role of professionals is increasing as patients live longer and present evolving phenotypes. Therefore, multidisciplinary follow-up has emerged as an essential component of the standard of care protocol for patients with SMA. On the other hand, issues regarding communication of the diagnosis to a new patient still deserve a thorough discussion to better accommodate the complexity of the different situations. We present this review as a cross-cutting perspective involving health care practitioners, genetic counselors, psychologists, and caregivers to further elaborate and guide the communication process of an SMA diagnosis under several settings.http://www.sciencedirect.com/science/article/pii/S2949774423008348Communication of diagnosisGenetic counselingPsychological impactSpinal muscular atrophyTreatment decision making |
| spellingShingle | Eulàlia Rovira-Moreno Anna Abulí Patricia Muñoz-Cabello Marta Codina-Solà Eva Baillès Mencía de Lemus Basil T. Darras Eduardo F. Tizzano The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era Genetics in Medicine Open Communication of diagnosis Genetic counseling Psychological impact Spinal muscular atrophy Treatment decision making |
| title | The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era |
| title_full | The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era |
| title_fullStr | The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era |
| title_full_unstemmed | The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era |
| title_short | The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era |
| title_sort | diagnosis communication process in spinal muscular atrophy a cross cutting view of the new challenges facing the therapeutic era |
| topic | Communication of diagnosis Genetic counseling Psychological impact Spinal muscular atrophy Treatment decision making |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423008348 |
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