Evaluating the Impact of Local Genetic Testing for Hereditary Hematologic Malignancies on Patient Reported Outcomes
Notice bibliographique
Résumé
Introduction: Since the initial discovery of deleterious germline variants in RUNX1 as the cause of familial platelet disorder with associated myeloid malignancies, germline variants in numerous other genes have been found which predispose individuals to myeloid and/or lymphoid malignancies. Despite growing awareness, genetic testing for hereditary hematologic malignancies (HHMs) can be difficult and costly to access for many patients. Identifying persons with or at high risk of developing HHMs can better inform prognosis, cancer screening recommendations, and personalized treatment plans; benefiting patients and their families. However, in the case of HHMs, there is a paucity of literature on the impacts of testing and genetic counselling on patient-reported outcomes. The main objective of this study was to evaluate the impact on patient reported outcomes of recently implemented local genetic testing for patients with suspected HHMs using surveys co-developed by members of a patient advisory panel. Methods: Individuals over the age of 16 years undergoing genetic testing for HHMs were eligible for participation. Patients were consented to the study at the time of their pre-test genetic counselling visit. Patients completed one pre-test survey (PreT) immediately following their pre-test counselling and two post-test surveys (PT1 and PT2 administered by a research coordinator not involved in the patient's clinical care 24 hours and 2-4 weeks after results disclosure and post-test counselling, respectively). Surveys used a 5-point Likert scale to assess patient-reported outcomes including: quality of life; mental health aspects such as family stress, fear, anxiety, anger, and sadness as a result of their personal and/or family history of cancer; and satisfaction with pre- and post-test counselling. Survey data were analyzed using SPSS statistical software. Percentages were reported as percentage agree/strongly agree (agree), disagree/strongly disagree (disagree), or neutral. Responses for each Likert scale question were assigned a score of 1 through 5 and p-values were calculated using the Wilcoxon Signed Rank Test. Results: Thirteen individuals participated in this study. One had a pathogenic variant, 6 had a Variant of Uncertain Significance (VUS) detected, and 6 received a non-diagnostic (i.e. negative) result. Patient reported experiences of anxiety, sadness, and fear as a result of their and/or their family's history of cancer were unchanged pre- and post-testing, with about 50% of patients experiencing these symptoms. Anger was not a common patient-reported outcome (8% Pre-T and 15% post-T (PT1 & PT2). The majority (77%) of patients did not feel that the results of their testing created additional stress, worry, or guilt in the family. Patients' worry about cancer risk in family members as a result of their and/or their family's history of cancer decreased from 100% agree Pre-T to 54% and 46% agree PT1 and PT2, respectively (mean score 4.46 pre-T vs 3.31 PT2; p = 0.007). Overall, individuals' wonder of why they got cancer did not change despite having genetic testing performed ((50% Pre-T, 61% PT1, and 70% PT2 (mean score 3.85 pre-T vs 3.85 PT1, and 3.77 PT2; p = 1.0 and 0.76, respectively)).The result of the testing (pathogenic, VUS, or non-diagnostic) did not impact patients' understanding of why they got cancer. There were no significant differences in responses for any of the questions between the two post-test surveys. Nearly all patients agreed that their results might benefit others in the future (92% PT1 & 100% PT2). 92% of patients reported being satisfied with their genetic testing discussion, 77% (PT1 & PT2) reported they understood the limitations of testing, and 100% agreed that they understood the results. Overall, 100% of the patients were glad to have had genetic testing done, and 100% and 92% reported that it was helpful for themselves and their families, respectively. Conclusion: Our findings show that from the patient perspective, genetic testing was beneficial for themselves and their families and did not result in additional mental health burden, independent of the actual test results. Our findings underscore the importance of pre-and post-test genetic counselling and provide patient-reported outcome data, which would support expanding access to genetic testing for HHMs for at-risk patients.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,007 | 0,016 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,001 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,001 | 0,001 |
| Science ouverte | 0,001 | 0,001 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,003 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».