This paper describes the present state and problems of genetic testing of monogenic and multifactorial disorders in genetic disorder. Hereditary breast and ovarian cancer syndrome (HBOC) is picked up as a sample of monogenic disorder.

 Persons affected by HBOC have mutations in BRCA1/BRCA2 gene, therefore, persons who have mutations in those genes must be taken care of occurrence of HBOC. Persons who have the plural number of family history about breast or ovarian cancers had better recommended to genetic testing of BRCA1/2 gene.

 Genome-wide association study (GWAS) and polygenic risk factor (PRS) study are developed rapidly but those studies about Japanese population are few for the present. Many genetic disorders are specific to populations. GWAS or PRS using Japanese population must increase from now on.

 Alzheimer's disease is a multifactorial disorder and persons affected by this disease are increasing. APOE gene is one of causal genes. Many persons want to investigate this gene. We must inform the method to prevent Alzheimer's disease to persons who have mutations in APOE gene.

 A PRS of coronary arterial diseases (CAD) indicates that the risk of occurrence of CAD is the same between persons who have high score of PRS and have desirable life style and persons who have low score of PRS and have undesirable life style.

 Epigenome change is one cause of occurrence of genetic disorders. DNA methylation and histon modification change transcription of many genes. Many studies are necessary to clarify relation between epigenome change and life style.

 Genetic disorders are very specific to individual and are difficult to understand. We must educate persons who receive health evaluation and promotion to realize genetic disorder with accuracy.

 At Japan Society of Ningen Dock, we started educational program about human genomics and genetic test for preventive medicine from 2019. It contain e-learning and FAQ and is available for not only doctors but all the paramedics.

 We think the first genetic tests to introduce at health check are pharmacogenomics and HLA typing. They are important to predict serious side-effects or efficacy of medications including clopidogrel. HLA types are also related to predisposition of many diseases. If we know them beforehand, they can be used for preventive medicine.

 Next genetic-test candidates are for multifactorial diseases. Those diseases are main foci of health check-up or ningen dock. Recent studies showed lifestyle modification lowered incidence of coronary disease, dementia and gastric cancer into half even in high genetic risk groups. Polygenic risk scores using millions of SNP information are promising and have more prognostic value.

 The third tests are for adult-onset dominant genetic disorders. American College of Medical Genetics and Genomics has published recommendations of genes. In general population, 2% of people are estimated to have pathogenic variants of those genes. It is important to develop appropriate surveillance plans for persons with those mutations in the future. It is also necessary to build up social and legal flamework to protect from genetic discrimination and insurance issues.

 Including those tests, health check with whole genome screening has started at university hospital.

 Precision medicine using exome and whole-genome sequences has grown exponentially in the clinical setting, and many laboratories are putting sequencing into their portfolio of diagnostics. The cost of whole genome sequencing has come to be less than one thousand dollars per person, but in order to analyze it and interpret its clinical significance, it is necessary to process a huge amount of data quickly and accurately. This costs several times as much as the cost of the sequence itself. We will introduce some examples and explain the project of Genomics England, focusing on the leading facilities in the United States, such as clinical sequences using whole genome sequences. Various tools are being developed that create clinical report after analyzing whole genome information. In this paper, I will briefly introduce one of such tools developed by Fabric Genomics Inc., which was evaluated in the Genomics England project, and introduce the current state of clinical sequences.

 Genomic testing is now becoming popular. Although DTC (direct-to-consumer) service for genomic testing is available through internet, some problems remain in DTC. My co-investigators and I have investigated the efficacy of genomic testing, and found that it was useful if the results were properly explained by the doctor. In this study we prepared the informed consent form and developed the method for explanation, which I describe in this article. Various items including the purpose, significance and methods for genomic testing, and the way to protect personal information should be included in the informed consent form. With regard to explanation of the results, data of health check and information of family history are also taken into account and the explanation should be done by the doctor in person. When the rare variant is detected, the examinee is introduced to the genetic counselor and the specialist prior to the explanation of common variants. When rare variants are not detected, explanation of common variants, which includes diseases, diathesis and drug responses, is carried out. Disease risk consists of genetic and environmental risk. It is important to educate that overall disease risk is reduced by decreasing the environmental risk, which can be achieved by the examinee's own effort to improve the life style.

 Objective: To study the feasibility of implementing nutrition education for health promotion at the company cafeteria by providing information of nutrition education to the company cafeteria management staffs.

 Methods: In order to examined changes in knowledge and attitude (intention and self-efficacy) of the contents of the nutrition education for health promotion at the company cafeteria, self-administered questionnaire survey to four company cafeteria management staffs and one employee of the company cafeteria were conducted. For the survey, the nutrition education manual for health promotion at the company cafeteria was prepared in advance based on the actual situation of the company cafeteria, and provided to the targets at the time of the survey. This study was a case series study based on the KAP-KAB model, the Theory of Planned Behavior, and the concepts of self-efficacy and intention.

 Results: After reading the manual, the answers of all the company cafeteria management staffs were almost positive that they understood the contents related to nutrition education for health promotion at the company cafeteria and they would like to implement to provide nutrition education for health promotion. However, in terms of self-efficacy, there the answers were given both high and low, showing differences depending on the nutrition education. On the other hand, the answer of the cafeteria employee in relation to intention appeared almost positive but it depends whether the company cafeteria management staffs understood nutrition education or not.

 Conclusions: Providing information of nutrition education to the company cafeteria management staffs improved their knowledge and attitudes, the survey demonstrates the feasibility of implementing nutrition education for health promotion at the company cafeteria. For collaborative efforts by company cafeteria management staffs and cafeteria employees in implementing nutrition education, it is necessary to review the content of providing information and the behavioral science theories to be used.

Objectives:

 Coronary artery calcification in lung helical CT scan was defined as incidental findings and was determined to require further examination. If calcification was observed, the presence or absence of significant coronary artery stenosis and risk factors were examined.

Participants:

 The subjects were 2,426 patients who took lung helical CT scan at our health examination center between January 2019 and December 2019.

Method:

 1) The primary outcomes were examined in the following items. Gender, age, smoking status, smoker's Brinkman index. Presence of hypertension, diabetes and hyperlipidemia. Blood test results, visceral fat and BMI test value. Based on the presence or absence of coronary artery calcification, these items were evaluated.

 2) Among the patients who could be confirmed to visit a medical institution after the examination, those who underwent coronary angiography only or coronary CT were classified as "non-PCI group", and those who underwent percutaneous coronary angioplasty were classified as "PCI group". We investigated whether there were significant differences in the endpoints between these groups.

Results:

 Lung helical CT scan was performed on 2,426 patients, and coronary artery calcification was observed in 296 patients (12%). 1) The group with coronary artery calcification showed significant difference in the evaluation items excluding eGFR compared to the group without coronary artery calcification. 2) Of the 80 patients visited a medical institution 34 underwent coronary catheterization only, 46 underwent CAG, and 16 (0.7%) underwent PCI. The prevalence of diabetes was significantly higher in the PCI group than in the examination group.

Conclusions:

 Those who were positive for coronary artery calcification had a significantly higher prevalence of coronary risk factors, except for eGFR, compared to the group without calcification.

 Significantly more diabetic patients had stenosis in the coronary arteries that required PCI.

 Purpose: This study aims to compare the risk of elevated blood pressure in relation to obesity using three of its criteria, and to determine its association with body mass index (BMI) and waist circumference (WC).

 Method: This study enrolled 15,560 individuals: 7,126 men and 8,434 women, aged 20–59 years, who had undergone annual workplace health checkups at two adjacent prefectures in the Tohoku region in 2013. Some individuals were flagged because of the following reasons: missing data, use of antihypertensive medication, uncertainty about the use of antihypertensive medication, smoking habit, or clinically implausible values. These individuals were excluded. The participants were classified first by sex and then by age group: those in their 20s and 30s and those in their 40s and 50s. Four cutoff values for blood pressure (sBP/dBP: ≧120/80, ≧130/80, ≧130/85, and ≧140/90 mmHg) were compared using three obesity criteria (BMI and criteria by the Japan Society for the Study of Obesity and the World Health Organization for WC ). The areas under the receiver operating characteristic (ROC) curves (AUCs) for BMI and WC for each cutoff value were compared using the DeLong test, and further cutoff values were calculated.

 Results: The odds ratios for participants in their 20s and 30s (men: 3.78–6.75, women: 3.80–8.37) were greater than those for participants in their 40s and 50s (men: 1.87–2.64, women: 2.41–4.15). Comparisons of BMI and WC by AUC of the ROC curve did not show significant differences for most criteria, except for women in their 40–50s and ≧120/80 mmHg.

 Conclusion: Our results showed no significant difference between BMI and WC in determining elevated blood pressure. In addition, for many criteria, AUC<0.7 was a limitation in predicting high blood pressure using obesity indices alone.

Objective: To determine the strength of the immune response following SARS-CoV-2 vaccination and the individual factors related to its level.

Design: Of our staff members who received Pfizer-BioNTech or Moderna vaccines between May and July 2021, 152 consented to participate in this study. Spike protein IgG antibody levels were measured at least 7 days after the second dose of the vaccine. We analyzed how age and sex of the participants, side effects, and vaccine type were related to antibody level.

Results: All the participants had detectable spike protein IgG antibody levels (median level: 7,314AU/mL) after vaccination. Individuals aged<45 years old showed significantly higher antibody levels than those aged ≧ 45 years old (p<0.01). Individuals whose body temperatures exceeded 37.5°C after the vaccination showed significantly higher antibody levels than those with body temperatures ≦ 37.4°C (p<0.01). Individuals who received the Moderna vaccine showed higher antibody levels than those who received Pfizer-BioNTech (p<0.01). Antibody levels declined gradually with time.

Conclusions: These results suggest that spike protein antibody levels are associated with age and degree of fever of the individuals receiving the vaccine and the vaccine type administered. Antibody levels declined with time. We believe that administering booster vaccinations should be reconsidered.

 With the declaration of a state of emergency in response to the Covid-19 pandemic, the lifestyles of individuals have changed dramatically. Remote working has reduced physical activity levels and has also led to increase in eyestrain, stiff shoulders, neck pain, and back pain. In addition, the amount of time spent engaging in physical activity has decreased among the older adults in urban areas, and there is concern about the attendant progression of frailty associated with this. As we continue to live with Covid-19, it is expected that chronic diseases will worsen, together with lowered immunity, muscle weakness, and mental health problems due to stress.

 The following recommendations are suggested regarding health guidance for medical examination: The first is to provide conscious health guidance based on the perspective of behavioral science. The second is to use the information to promote physical activity in a timely manner when individuals become aware of a reduction in their physical activity, and the lastly, to encourage individuals to recognize lethargy of their bodies caused by changes in physical activity related to Covid-19 restrictions, while doing simple exercises.

 It is necessary to return to the physical activity levels maintained before Covid-19 to promote physical and mental health.