What is Genome?
Do you know how your body supports your daily life?
Our bodies are like a grand story woven together by threads called DNA, the blueprint of life within our cells.
The information read from this DNA is called the genome. It contains significant information related to our constitution, medical conditions, and the effectiveness of medicines. This is why “genomic medicine” is getting popular.
What value does genome provide for human?
Genomic information contains essential information related to our constitution, medical conditions, and the effects of medicines. Genomic medicine is an innovative medical approach that analyzes this "genome information" in detail to prevent, diagnose, and treat diseases. This makes it possible to accurately understand the patient's constitution and disease state and offer optimal treatment for each patient.
What are the specific benefits?
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1. Providing optimal treatment for each individual
You can choose the most effective medicines and treatments according to your biological constitution and medical condition.
This increases the effectiveness of treatment while minimizing the risk of side effects. -
2. Early detection of disease
Knowing your genetic predisposition in advance allows you to detect diseases early and take appropriate preventive measures.
It also holds promise for early detection of cancer and early detection of cancer recurrence. -
3. Healthcare maintenance support
By knowing your genomic information, you can obtain guidelines for developing healthier lifestyle habits.
Genome has great potential to make future medical care safer and more effective. At our “genome-based clinic”, we unravel the story of your genes and provide genomic medicine that is optimized for each individual.
Genome Clinic
Outpatient Consultation Hours
Morning: 9:00–12:00 (Registration: 8:00–11:30)/
Afternoon: 13:30–16:30 (Registration: 13:00–16:00)
Ⅰ. Diagnosis and Treatment of Intractable Diseases
PediatricsDiagnosis of Pediatric Intractable Diseases Through Genome Analysis
Achondroplasia, Osteogenesis Imperfecta, Hypophosphatasia, etc.
Center for Promoting Treatment of Intractable Diseases
There are approximately 7,000 rare and intractable diseases, many of which are caused by genetic abnormalities. These diseases are especially prevalent in childhood. Genome-based medicine plays a significant role in treating these conditions. Every year, the number of genetically diagnosable rare and intractable diseases is increasing. For more information about rare and intractable diseases, please consult the Intractable Disease Medical Promotion Center or the pediatrics department.
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Center Director
PediatricsDiagnosis of Pediatric Intractable Diseases Through Genome Analysis
Lysosomal Storage Disorders and Other Neurometabolic Diseases
Center for Promoting Treatment of Intractable Diseases
We specialize in inherited metabolic disorders and have long been involved in the clinical care and research of conditions included in newborn mass screening programs, as well as lysosomal storage disorders. Even within this field alone, there are thought to be more than 100 distinct diseases, and specialized expertise is essential for early diagnosis.
At our hospital, we are preparing to accept requests from medical institutions nationwide for enzyme-based diagnostic testing for lysosomal disorders, and we are also in the process of establishing contracts to provide a range of genetic testing services. Although many of these conditions were once considered rare and intractable diseases, effective disease-modifying and curative therapies have now been developed for an increasing number of disorders, and clinical research and trials continue to advance. Accordingly, we aim to engage proactively in this field.
In addition, our Department of Genetic Medicine provides genetic counseling for a wide range of inherited conditions. If you have any concerns related to genetics, please feel free to consult with us.
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Deputy Center Director
Neurology Identification and Treatment of Inherited Neurological Disorders Through Genome Analysis
Spinocerebellar Degeneration, Muscular Dystrophy, etc.
Neurology
Diseases of the brain (especially intractable neurological diseases), the most mysterious organ, are said to be closely related to genes (genomes). If you have a family history of neurological disease and are concerned about symptoms, please feel free to consult a neurologist.
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Chief Director
OtorhinolaryngologyDiagnosis and Treatment of Hearing Loss Through Genome Analysis
Hereditary Hearing Loss, etc.
Otorhinolaryngology
My name is Sakamoto and I am an otorhinolaryngologist. I have been involved in genetic treatment for hearing loss since around 2008 when I was working at Hyogo Prefectural Children's Hospital. As a clinical geneticist, I am currently responsible for the genomic outpatient department at Osaka Public University, where I offer genomic treatment for conditions such as hearing loss and tumors. At our hospital, I also accept consultations for genetic diagnosis of hearing loss. If you have any concerns about genetics in the field of otorhinolaryngology, please feel free to contact us.
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Ear Center
Center Director
Cardiovascular MedicineIdentification and Treatment of Inherited Heart Disease Through Genome Analysis
Brugada Syndrome, Inherited Cardiomyopathies, etc.
Cardiovascular Medicine
In the area of cardiovascular disease, early diagnosis of familial hypercholesterolemia, which causes a high rate of myocardial infarction, hereditary arrhythmia, which can lead to sudden death, and hereditary cardiomyopathy is an essential requirement.
Additionally, people who take medications for prolonged periods for conditions such as high blood pressure or ischemic heart disease can also use drug-responsive genetic testing to check how well a drug works and how likely it is to cause side effects. Please feel free to contact us.
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Chief Director
NephrologyAssessing the Risk of Declining Kidney Function Through Genomic Analysis
Chronic Kidney Disease (CKD), Polycystic Kidney Disease, etc.
Nephrology
Nephrology
In chronic kidney disease (CKD), renal function and genetic material in the urine protein are identified as relavant. In the future, research to recruit CKD risk factors and source genetic material is expected to accelerate. Even in polycystic kidney, the most frequent hereditary kidney disease, genome analysis has revealed factors involved in renal functional deterioration, and is expected to contribute to diagnostic treatment. In our department, we would like to respond sequentially according to the necessity.
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Staff Physician
II. Genetic Counseling
Genetic CounselingGenetic Counseling Consultations
At our hospital, we provide genetic counseling delivered by a Certified Genetic Counselor®.
For example, patient may have concerns such as:
“Cancer is common in my family, and I’m worried, but it doesn’t feel serious enough to see a doctor,” or “A certain illness runs in my family, and I’m concerned about my own risk, but I’m not sure which department I should consult.”
If you have any concerns, why not start by speaking with a Certified Genetic Counselor®?
We can help you organize your family history, your personal situation, and any questions or worries you may have.
Please feel free to contact us.
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All services are self-pay. The consultation fee is JPY 2,500 per 15 minutes (tax not included).
Appointments are by reservation only.
Genetic testing is available at an additional cost.
Who This Service May Be Suitable For (Examples)
- You have a family history of a hereditary condition and would like to explore your own risk.
- You have been told you may have a hereditary condition and are looking for a medical facility that can provide genetic testing.
- Your child has a hereditary condition, and you would like to discuss future pregnancy and family planning.
- You would like to consult about genetic factors before marriage or pregnancy.
Consultation Process
- Please contact our call center and let us know that you would like to schedule a genetic counseling appointment.
- A Certified Genetic Counselor® will contact you.
- We will ask about your concerns and obtain a brief family history.
- Based on the content of your consultation, the appropriate physician will be assigned and your appointment will be confirmed.
- On the day of your appointment, please visit our hospital to receive genetic counseling.
III. Diagnosis and Treatment of Dementia
PsychiatryGenome Analysis and Dementia Treatment Selection
Alzheimer’s Disease, etc.
Psychiatry
Alzheimer’s disease is the most common form of dementia among people aged 65 and older, and its symptoms typically progress relatively slowly.
It is a condition in which the accumulation of amyloid-β protein and tau protein in the brain leads to impaired cognitive function.
It is believed that both genetic factors and environmental factors, such as lifestyle, contribute to its development.
If you have concerns—such as a strong family history of dementia—please feel free to consult with us.
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Chief Director
IV. Genomic Testing and Diagnosis
PharmacogenomicsGenomic Consultation on Medication Response and Drug Allergy Predisposition
This is a consultation service for genetic testing to assess “how you respond to medications” and your predisposition to drug allergies.
By taking this test in advance, if you develop an illness in the future, we can tailor medication selection to your individual profile—avoiding medications that are less likely to be effective, and minimizing the risk of side effects or allergic reactions. This enables safer, more appropriate, and optimized pharmacotherapy.
When you visit Iseikai International General Hospital, we will adjust your medications—such as selecting alternative drugs or modifying dosages—based on your test results. Even if you are already receiving drug therapy, this test can provide additional reassurance and support continued treatment with greater confidence.
Through this consultation service, we provide an explanation of the pharmacogenomic test, accept applications, and review the test results with you. If necessary, we will also refer you to the appropriate physician. This service will be launched in spring 2025 as part of the health checkup menu of Human Dock SOPHIA at Iseikai International General Hospital.
For appointments or inquiries, please contact our call center.

SOPHIA Complete Medical Checkup Center (Ningen Dock)
SOPHIA Comprehensive Health Checkup Center (Ningen Dock)
At Ningen Dock SOPHIA, we have been offering genomic diagnostic services, including our Cancer Genome Checkup Program, since 2023.
A new era has already begun—one in which health checkups cannot be discussed without genomic information.
Please feel free to contact us anytime for more information.

Director
Genome Testing at Our Hospital
Cancer Genome Testing
This test is designed to identify the type and characteristics of cancer.
With a single blood draw, it can analyze 50 cancer-related genes.
It may also help detect cancers at levels that cannot be identified even through imaging tests.
Our hospital is equipped with in-house genomic analysis systems, and a team of experts conducts the analysis. The results are explained by a board-certified clinical geneticist.
Please note that this test is not covered by insurance and is provided as a self-pay service.
- [Incidental Findings] Genetic variants unrelated to cancer—such as those associated with inherited traits or the risk of certain conditions—may be discovered incidentally. In such cases, we will provide a detailed explanation through genetic counseling and share information as requested.
- [Protection of Personal and Genetic Information] Your genetic information will be managed under strict security controls and handled appropriately in accordance with our privacy policy.
- [Psychological Impact] Depending on the results, learning unexpected information may cause psychological distress for you and/or your family members.
- [Relevance to Treatment] The test results may not directly determine your treatment, and even if a treatment is selected based on the results, it may not necessarily be effective.
APOE Genetic Testing
APOE has three genetically determined variants (E2, E3, and E4), and carrying the E4 variant is known to be a risk factor for Alzheimer’s disease.
APOE genetic testing can help assess the risk of side effects associated with newer Alzheimer’s disease treatments, such as lecanemab.
It takes approximately 2–3 weeks to receive the test results.
This test is not intended to determine whether you will develop the disease in the future.
Next-Generation Sequencer
This is a genome analysis and diagnostic system designed for cancer patients and individuals undergoing comprehensive health checkups (Ningen Dock).
It enables us to perform genome analysis and genome diagnosis in-house at our facility.
For those interested in genomic medicine
For inquiries, please contact the relevant department using the phone number below.
Medical Corporation ISEIKAI
ISEIKAI International General Hospital
- Reception Hours: Monday–Friday
8:30–17:00 - 0570-099166
SOPHIA
Complete Medical Checkup Center
- Service Days: Monday–Saturday
(Closed on Sundays, national holidays,
and December 31–January 3) - Reception Hours: Monday–Saturday
8:30–17:00 - 0570-099166
- FAX 06-4301-5635
- sophia@iseikaihp.or.jp







Selected as an “Outstanding Specialist Clinician” by the Doctor of Doctors Network™.