Decision Aids for Preventive Treatment Alternatives for BRCA1/2 Mutation Carriers: a Systematic Review
Bibliographic record
Abstract
Introduction Women with a pathogenic BRCA1/2 mutation have a markedly increased lifetime risk of developing breast and/or ovarian cancer. The current preventive treatment alternatives that are offered are an intensified breast cancer screening programme and risk-reducing operations. Before deciding on one option, medical and personal factors such as life situation and individual preferences must be weighed carefully. Decision aids are used internationally to support BRCA1/2 mutation carriers during their decision-making process. In this study these are analysed structurally for the first time and their applicability to the German context is examined. Material and Methods A systematic literature search in five electronic databases and a manual search were performed. The identified decision aids were evaluated with regard to formal criteria, medical content and quality. The qualitative assessment used the criteria of the International Patient Decision Aid Standards Collaboration (IPDASi v4.0), which examined various dimensions (e.g., information, probabilities, values). Results Twenty decision aids, which were published between 2003 and 2019 in Australia (n=4), the United Kingdom (n=3), Canada (n=2), the Netherlands (n=2) and the USA (n=9), were included. Nine focus on BRCA1/2 mutation carriers and eleven include other risk groups. Eighteen include risk-reducing operations as decision options, 14 list screening methods for breast and/or ovarian cancer, and 13 describe the possibility of pharmacological prevention by means of selective oestrogen receptor modulators or aromatase inhibitors. Nine of the 20 decision aids meet fundamental quality criteria (IPDASi v4.0 qualification criteria). Conclusion International decision aids can serve formally as a basis for a German decision aid for BRCA1/2 mutation carriers. Some of them differ markedly in content from the recommendations of German guidelines. Only a few achieve a high quality. Zusammenfassung Einleitung Frauen mit einer pathogenen BRCA1/2 -Mutation haben ein deutlich erhohtes Lebenszeitrisiko, an Brust- und/oder Eierstockkrebs zu erkranken. Als derzeitige praventive Handlungsalternativen werden ein intensiviertes Brustkrebs-Fruherkennungsprogramm und risikoreduzierende Operationen angeboten. Vor der Entscheidung fur eine Option mussen medizinische und personliche Faktoren wie die Lebenssituation und individuelle Praferenzen sorgfaltig abgewogen werden. Um BRCA1/2 -Mutationstragerinnen wahrend ihres Entscheidungsfindungsprozesses zu unterstutzen, werden international Entscheidungshilfen eingesetzt. In dieser Studie werden diese erstmals strukturiert analysiert und auf ihre ubertragbarkeit auf den deutschen Kontext gepruft. Material und Methoden Es wurden eine systematische Literaturrecherche in 5 elektronischen Datenbanken sowie eine Handsuche durchgefuhrt. Die identifizierten Entscheidungshilfen wurden bezuglich formaler Kriterien, medizinischer Inhalte und ihrer Qualitat bewertet. Die qualitative Bewertung erfolgte mithilfe der Kriterien der International Patient Decision Aid Standards Collaboration (IPDASi v4.0), mit denen verschiedene Dimensionen uberpruft wurden (z.B. Informationen, Wahrscheinlichkeiten, Wertevorstellungen). Ergebnisse Es wurden 20 Entscheidungshilfen eingeschlossen, die zwischen 2003 und 2019 in Australien (n=4), Gro ss britannien (n=3), Kanada (n=2), den Niederlanden (n=2) und den USA (n=9) veroffentlicht wurden. Neun richten sich an BRCA1/2 -Mutationstragerinnen, 11 schlie ss en weitere Risikogruppen ein. 18 beinhalten als Entscheidungsoptionen risikoreduzierende Operationen, 14 benennen Fruherkennungsverfahren fur Brust- und/oder Eierstockkrebs, 13 beschreiben die Moglichkeit der medikamentosen Pravention mittels selektiver ostrogenrezeptor-Modulatoren oder Aromatase-Inhibitoren. Neun der 20 Entscheidungshilfen erfullen grundlegende Qualitatskriterien (IPDASi v4.0-Qualifizierungskriterien). Schlussfolgerung Formal konnen internationale Entscheidungshilfen als Grundlage fur eine deutsche Entscheidungshilfe fur BRCA1/2 -Mutationstragerinnen dienen. Inhaltlich weichen sie teils deutlich von den Empfehlungen deutscher Leitlinien ab. Nur wenige erreichen eine hohe Qualitat.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.016 | 0.098 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.006 | 0.006 |
| Bibliometrics | 0.013 | 0.012 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.004 | 0.004 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.009 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".