Target disease,treatment

• Overview
• Target disease,treatment
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Target diseases

• Hereditary circulatory diseases (e.g., Marfan syndrome, cardiomyopathy)
• Congenital circulatory and cardiovascular diseases
• Chromosome abnormalities
• Other diseases suspected to be hereditary
• Medical issues relating to heredity and reproductive health
• Topics relating to genetic testing

Diagnostic modalities

Genetic testing

Genetic testing can be performed within the NCVC to screen for specific diseases after obtaining patients' informed consent. Some tests are reimbursable under health insurance coverage, whereas others are not (performed as part of research).

Diseases for which genetic testing can be performed at the NCVC:

• Long QT syndrome
• Brugada syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Familial hypercholesterolemia
• Marfan syndrome
• ロLoeys-Dietz syndrome
• Vascular Ehlers-Danlos syndrome
• Familial thoracic aortic aneurysm and dissection
• Primary pulmonary hypertension
• Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)

Acting as a bridge between patients and researchers

The Clinical Genetic Counseling Room coordinates meetings between patients and genetic researchers, when appropriate, to invite patients to participate in research involving genetic analysis performed within or outside the NCVC.

Communication of test results may occur via a genetic counseling session.

Items of consultation

• Genetic counseling
• Referral to the related departments of specialization for medical care

Outpatient consultation

Outpatient genetic counseling

The Outpatient Clinic for Genetic Counseling provides genetic counseling.
During genetic counseling, physicians specializing in genetics and genetic medicine and/or accredited genetic counselors discuss with patients or their families the concerns regarding their hereditary issues and provide information based on genetics and clinical genetic medicine with the aim to arrive at optimal solutions.

The forerunner of the Outpatient Clinic for Genetic Counseling commenced its operations in January 2001 as a point of contact independent of the NCVC's clinical and research divisions. In April 2005, the original clinic was repositioned as the NCVC Hospital's outpatient clinic, providing voluntary medical care (not covered by health insurance). In April 2008, health insurance coverage was authorized for genetic counseling on specific hereditary diseases, provided that genetic tests have been conducted to screen for these diseases as health insurance-covered medical acts and that patients are advised based on the test results.
The number of hereditary diseases covered by genetic counseling has been increasing every year. Yet, not all diseases are covered by the clinic's service or health insurance. Please contact the clinic's staff for information on the scope of and conditions for health insurance coverage.

Genetic counseling is available for concerns such as the following:

• "My family doctor recommended genetic testing/prenatal diagnosis."
• "I was told that I might pass my illness to my children."
• "Our child has a disability. Will our next child be all right?"
• "There is a possibility of a hereditary circulatory disease in my family line. Will I have it, too?"
• "There are many individuals with cancer and circulatory diseases as well as many handicapped persons in my family line. Are these conditions hereditary?"
• You are wondering, prior to your marriage or pregnancy, whether your future child might have serious health issues, such as a congenital circulatory disease that may be hereditary.
• You have questions related to consanguineous marriage.
• You have other concerns and worries related to heredity or congenital abnormalities.

All contents of genetic counseling sessions are confidential. Because genetic counseling is a medical service, physicians and accredited genetic counselors are bound by confidentiality and professional secrecy and are not allowed to divulge any information related to genetic counseling to any third party (even to the discussed patients in some cases).

Appointment

Consultation is by appointment only at the Outpatient Clinic for Genetic Counseling.

• Telephone: +81-(0)6-6170-1070 (main line)
• Outpatient Clinic for Genetic Counseling: IDA Kazufumi (accredited genetic counselor)

Upon receiving a request for an appointment, the NCVC will ask for basic information (subject details, family medical history, etc.) and schedule an appointment.

Fees

In general, genetic counseling fee must be fully paid by patients (first consultation, 10,000 yen plus taxes; subsequent consultations, 6,000 yen plus taxes per session). However, there are cases in which genetic counseling may be covered by health insurance. Please ask the clinic's staff for further information.

last updated : 2021/10/01