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Genetic testing for inherited retinal dystrophies and genetic counseling

Genetic testing for inherited retinal dystrophies

100

1) Patients suspected of having hereditary retinal dystrophy (retinitis pigmentosa and related diseases, macular dystrophy, Usher's syndrome, difficulty in differentiation from autoimmune retinopathy, etc.). 2) In principle, consent acquisition is over 20 years old. However, if a doctor deems it necessary, it is possible for children aged 4 and over to participate in gene therapy overseas, as it has been reported that children aged 4 and over participate. 3) A peripheral blood sample (5 mL) required for testing can be submitted. 4) Informed consent has been obtained from the patient to participate in this study (if the patient is under 20 years of age, consent will also be obtained from the person with parental authority (or guardian of a minor)). 5) Patients whose causative gene has been identified by participating in research at each institution can participate in this study because the criteria for analysis are not uniform for each institution.

Participants received genetic counseling, and after obtaining consent to participate in genetic analysis research, blood samples were collected. After genetic analysis, the results are examined at an expert meeting, and the examination results are returned to the participants.

None

The primary endpoint was the identification rate of the causative gene in all eligible analyses, which was predicted to be 30-40% based on past papers. The actual identification rate was 41%. No adverse events.

The identification rate of the causative gene in the test was 41%, which was consistent with previous publications. The usefulness of this test was demonstrated.

June. 30, 2023

No

Genetic testing will be conducted to identify the causative gene of inherited retinal dystrophy and we will investigate its effectiveness in clinical practice (sequence success rate, causative gene identification rate, useful information return rate to genetic counseling by inheritance determination, complication scrutiny proposal rate, etc.).

https://jrct.mhlw.go.jp/latest-detail/jRCT1052210112

Hirami Yasuhiko

Kobe City Eye Hospital

2-1-8 Minatojima Minamimachi Chuo-ku Kobe, Hyogo, Japan

yu-sugigami@kcho.jp

Maeda Akiko

Kobe City Eye Hospital

2-1-8 Minatojima Minamimachi Chuo-ku Kobe, Hyogo, Japan

+81-78-381-9876

akiko_maeda@kcho.jp

Complete

Oct. 01, 2021

Observational

1) Patients having hereditary retinal dystrophy and patients suspected having hereditary retinal dystrophy due to difficulty in diagnosing from autoimmune retinopathy.
2) Age: 20 years-old or older. However, if the doctor deems it necessary, participation in gene therapy abroad is reported to be over 4 years old, so participation over 4 years old is also possible.
3) Peripheral blood sample (5 mL) required for the test can be submitted.
4) Informed consent has been obtained from the patient for participation in this study (if the patient is under 20 years of age, consent is also obtained from the parental authority (or guardian of the minor)).
5) Patients whose causative gene has been identified by participating in the study at each institution can participate in this study because the criteria for analysis are not fixed for each institution.

Patients who refuse to participate in the study

Both

Inherited retinal dystrophy

NA

Causative gene identification rate

1) Sequence success rate
2) Candidate causative gene (variant) identification rate
3) Actionable rate
4) Percentage of patients who were able to perform genetic counseling for all subjects (including candidates)
5) Percentage of people who were able to understand the needs of genetic counseling and provide appropriate information

+81-78-381-9876

Sept. 15, 2021

none