The Pathophysiology of Inherited Renal Cystic Diseases
M Satariano, S Ghose, R Raina - Genes, 2024 - mdpi.com
Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a
variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well …
variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well …
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics
Given the limited therapeutic options for most rare diseases diagnosed through genomic
sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is …
sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is …
Integrating genomics into the care of people with palliative needs: A global scoping review of policy recommendations
Background: Genomics has growing relevance to palliative care, where testing largely
benefits relatives. Integrating genomics into palliative care has not received the critical …
benefits relatives. Integrating genomics into palliative care has not received the critical …
Approaching discussions about genetics with palliative patients and their families: a qualitative exploration with genetic health professionals
Genetic information can provide clinical benefits to families of palliative patients. However,
integration of genetics into mainstream medicine has not focused on palliative populations …
integration of genetics into mainstream medicine has not focused on palliative populations …
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
Objective To explore the perspectives of parents of undiagnosed children enrolled in
genomic diagnosis research regarding their motivations for enrolling their children, their …
genomic diagnosis research regarding their motivations for enrolling their children, their …
Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research
Given that pediatric genomic sequencing (GS) may have implications for the health and well-
being of both the child and family, a clearer understanding of the key drivers of the utility of …
being of both the child and family, a clearer understanding of the key drivers of the utility of …
Heritable thoracic aortic disease: a literature review on genetic aortopathies and current surgical management
Heritable thoracic aortic disease puts patients at risk for aortic aneurysms, rupture, and
dissections. The diagnosis and management of this heterogenous patient population …
dissections. The diagnosis and management of this heterogenous patient population …
Rapid Genome Sequencing Compared to a Gene Panel in Infants with a Suspected Genetic Disorder: An Economic Evaluation
Introduction: Rapid genome sequencing (rGS) provides high diagnostic yield for critically ill
infants with suspected genetic disorders, but it has high upfront costs and insufficient …
infants with suspected genetic disorders, but it has high upfront costs and insufficient …
Genomic Information for Families of the Terminally ill (GIFT) Project: Building Evidence for An Intervention Using Mixed Methods
S White - 2023 - search.proquest.com
As genomic testing moves into routine healthcare, including palliative care, understanding
the needs of health professionals will maximise the benefits of genomics while minimising …
the needs of health professionals will maximise the benefits of genomics while minimising …
[PDF][PDF] ゲノム情報の家族レベルの影響と遺伝学的検査: 経済評価に関する文献的レビュー
後藤景子 - 社会保障研究, 2024 - ipss.repo.nii.ac.jp
抄 録世界中の医療機関でゲノム配列決定は利用できるようになりつつある. 臨床現場では,
すでに広範かつ複雑なゲノム情報が診断に利用されている. これまでに遺伝性疾患と診断された …
すでに広範かつ複雑なゲノム情報が診断に利用されている. これまでに遺伝性疾患と診断された …