Genomic First Testing in Chronic Kidney Disease
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- В протоколе указаны: Genetic Testing.
- Кому может быть актуально
- Состояния в реестре: Chronic Kidney Disease(CKD), Genetic Kidney Disease. Базовые параметры: Без ограничений · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Канада
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Improving Diagnosis for Genetic Kidney Disease Through Early Genomic Assessment
Обзор
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease. To evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use. Family members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group. The study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD.
Подробное описание
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease.
To evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use.
Family members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group.
The study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD.
Вмешательства
- Диагностический тест Genetic Testing
Early access to genetic testing.
Первичные конечные точки
- Diagnostic yield and time to diagnosis [Срок оценки: Study duration]
Критерии участия
Patients:
Критерии включения
- A diagnosis of CKD warranting a referral to a nephrologist for further assessment AND
- Screen positive for potential genetic kidney disease using the Ontario Health Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD AND
- Index participant or substitute decision maker (SDM) can provide informed consent to participate.
Критерии исключения
- Participant or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
- Fail screening as set out by the Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD.
Family Members:
Критерии включения
- Family/caregiver or SDM can provide informed consent to participate AND
- Related patient participant must be enrolled in the study.
Критерии исключения
- Family/caregiver or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
- Related patient participant is not enrolled in the study.
Healthcare Provider:
Inclusion Criteria 1. Provided a referral for at least one study participant.
Критерии исключения
1\. Is not a referring healthcare provider.
Qualitative Sub-Study:
Критерии включения
- Patient participant who is enrolled in the main study.
- 18 years or older.
- The guardian for a minor
Критерии исключения
- <18 years of age unless the guardian can conduct the interview
- Patient participant who is not enrolled in the main study.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Да
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Канада · 1 центр
- London Health Sciences Centre — London
Идентификаторы
NCT: NCT06794567 · Genomic First Testing in CKD