Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects

Kruse, Judith; Mueller, Regina; Aghdassi, Ali A.; Lerch, Markus M.; Salloch, Sabine

doi:10.3389/fgene.2021.701988

Cited by 10 publications

(12 citation statements)

References 40 publications

(72 reference statements)

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“…Conducting genetic tests for RDs is sometimes unattractive to clinical laboratories owing to their perceived low profitability. Lack of knowledge and grasp of fast-paced developments in the field of genetic testing among HCPs is an additional barrier to accessing genetic testing ( Kruse et al, 2021 ). As a result, improving clarity on publicly available resources on genetic testing is imperative for encouraging the patient community to make informed choices about the procedure, mitigate potential harms associated with lack of information, and enable greater engagement in their own healthcare ( Robillard et al, 2021 ).…”

Section: Barriers To Rare Disease Diagnosismentioning

confidence: 99%

“…Stigma and discrimination are presented in various forms including regulatory issues, insurance or employment, or social issues such as exclusion from social activities ( Kruse et al, 2021 ). Stigmatization is experienced not only by the people with a particular diagnosis but also extended to those with a positive carrier status.…”

Section: Stigma Associated With Genetic Testingmentioning

confidence: 99%

“…Stigmatization is experienced not only by the people with a particular diagnosis but also extended to those with a positive carrier status. This discourages the implementation of cascade screening and population carrier screening ( Kruse et al, 2021 ). Stigma and genetic discrimination are not universal experiences for everyone diagnosed with a genetic disease.…”

Section: Stigma Associated With Genetic Testingmentioning

confidence: 99%

“…Stigma and genetic discrimination are not universal experiences for everyone diagnosed with a genetic disease. However, unaddressed stigma can hamper genetic test access ( Kruse et al, 2021 ). Furthermore, in some cultural contexts, stigmatization could cause gender-based discrimination and reproductive restrictions ( Kruse et al, 2021 ).…”

Section: Stigma Associated With Genetic Testingmentioning

confidence: 99%

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Stigma associated with genetic testing for rare diseases—causes and recommendations

Baynam,

Gomez,

Jain

2024

Front. Genet.

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Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are geographically disparate. Approximately 400 million people worldwide live with an RD equating to roughly 1 in 10 people, with 71.9% of RDs having a genetic origin. RDs present a distinctive set of challenges to people living with rare diseases (PLWRDs), their families, healthcare professionals (HCPs), healthcare system, and societies at large. The possibility of inheriting a genetic disease has a substantial social and psychological impact on affected families. In addition to other concerns, PLWRDs and their families may feel stigmatized, experience guilt, feel blamed, and stress about passing the disease to future generations. Stigma can affect all stages of the journey of PLWRDs and their families, from pre-diagnosis to treatment access, care and support, and compliance. It adversely impacts the quality of life of RD patients. To better explore the impact of stigma associated with genetic testing for RDs, we conducted a literature search on PubMed and Embase databases to identify articles published on stigma and RDs from January 2013 to February 2023. There is a dearth of literature investigating the dynamics of stigma and RD genetic testing. The authors observed that the research into the implications of stigma for patient outcomes in low- and middle-income countries (LMICs) and potential interventions is limited. Herein, the authors present a review of published literature on stigma with a focus on RD genetic testing, the associated challenges, and possible ways to address these.

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Section: Barriers To Rare Disease Diagnosismentioning

confidence: 99%

Section: Stigma Associated With Genetic Testingmentioning

confidence: 99%

Section: Stigma Associated With Genetic Testingmentioning

confidence: 99%

Section: Stigma Associated With Genetic Testingmentioning

confidence: 99%

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Stigma associated with genetic testing for rare diseases—causes and recommendations

Baynam,

Gomez,

Jain

2024

Front. Genet.

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“…While a rich literature relates to the technical implementation of genetic diagnosis in the context of rare diseases (8), there is also a limited body of work addressing societal and ethical aspects of genetic diagnosis for rare diseases (for a systematic review of ethical aspects see (9). The questions addressed relate to informed consent, biobanking (10), secondary ndings (11), parents of rare disease patients (12) and how rare disease patients experience the patient-doctor interaction (13), as well as understanding public attitudes towards genetic diagnosis (14).…”

Section: Introductionmentioning

confidence: 99%

Lived experiences of genetic diagnosis for rare disease patients: A qualitative interview study

Modelhart,

Sturz,

Kremslehner

et al. 2023

Preprint

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Background Genetic diagnosis is often understood as a single event within the care pathway of rare disease patients. Legal, policy and ethical scholarship focusing on rare diseases and genetic information discusses questions of how to best deal with the process of genetic diagnosis and the communication of genetic information within a given health system. We co-created a research design with rare disease patients and their families in Austria to explore in-depth the experiences of genetic diagnosis for people affected by rare diseases. Our objective was to trace the whole pathway of genetic testing and understand how rare disease patients experience genetic diagnosis as part of their care pathway in the healthcare system. Results Data was collected through in-depth semi-structured qualitative interviews with 14 patients with a suspected or diagnosed rare disease or their parents focusing on their perception of the pathway of genetic diagnosis in Austria. This pathway included the initial triggering of genetic diagnosis, the process of testing and its immediate (communication of results, counselling) and long-term, wider aftermath. Patients missed a clear link to already established forms of care such as their primary care/treating physicians. They also advocate for an integrated and interdisciplinary care pathway. Conclusions Our study underscores the importance of a continuous care and communication pathway spanning from the initial genetic diagnosis process to post-test phases. It further shows the importance of exploring patients’ perspectives through qualitative research methods to understand the intricate workings of public health policies and tools. Notably, integrating genetic diagnosis into a broader care trajectory is crucial for a holistic approach to care for rare disease patients who often rely on regular interactions with the healthcare system. Achieving this holistic approach requires collaboration between experts in specific rare disease areas, primary care physicians, and support networks.

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Genetische Diagnostik bei Nierenerkrankungen im Erwachsenenalter

Schultheiß

Hermle

2023

Nephrologie

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ZusammenfassungErkrankungen der Niere sind häufig genetisch bedingt, und über 600 beteiligte Gene wurden bereits identifiziert. Bei ungefähr 10 % der chronischen Nierenkrankheiten unklarer Genese lässt sich eine monogen vermittelte Ursache ermitteln. Dabei stellt eine DNA-Veränderung in einem einzigen Gen die molekulare Ursache der Erkrankung dar. Vielfach bleibt die genetische Diagnose derzeit noch unerkannt. Für die klinische Betreuung der Betroffenen hat eine genetische Diagnosestellung entscheidende Vorteile, da sich zum einen für eine Reihe von Diagnosen zusätzliche Therapieoptionen eröffnen und zum anderen auch auf belastende diagnostische und (bei genetischer Ursache erfolglose) therapeutische Maßnahmen verzichtet werden kann. Zusätzlich kann der genetische Befund im Rahmen einer reversen Phänotypisierung frühzeitig Hinweise auf die mögliche Beteiligung weiterer Organsysteme liefern. Dies ermöglicht entsprechende Vorsorgeuntersuchungen und die rechtzeitige Einbeziehung weiterer Fachgebiete. Nicht zuletzt erlaubt eine genetische Beratung auch für weitere Familienmitglieder eine Risikoeinschätzung, auch bei Kinderwunsch, sowie eine maßgeschneiderte Therapie und Prävention. Vor diesem Hintergrund ist eine breitere Implementierung genetischer Diagnostik in die klinische Praxis der Nephrologie sinnvoll. Das praktische Vorgehen bezüglich der Indikationsstellung zur Diagnostik und anschließend die Beurteilung der genetischen Befunde mit Übersetzung in ein personalisiertes Management sind Herausforderungen, welche eine enge interdisziplinäre Zusammenarbeit zwischen Nephrologie und Humangenetik erfordern. Zur optimalen Betreuung der Betroffenen wird darüber hinaus in Anbetracht des rasch expandierenden Wissens der Bedarf nach einer Subspezialisierung Nephrogenetik innerhalb des Fachgebiets deutlich.

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Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects

Cited by 10 publications

References 40 publications

Stigma associated with genetic testing for rare diseases—causes and recommendations

Stigma associated with genetic testing for rare diseases—causes and recommendations

Lived experiences of genetic diagnosis for rare disease patients: A qualitative interview study

Genetische Diagnostik bei Nierenerkrankungen im Erwachsenenalter

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