GENETIC HEALTH REPORT (GHR)
Personal Genetic Analysis Template 个人基因分析模板
Patient ID 患者 ID: [Name / ID]
Sex 性别： [Male/Female]
Date of Birth 出生日期： [YYYY] (Age 年龄：[XX] as of [YYYY])
Report Date 报告日期： [YYYY-MM-DD]
Testing Provider 检测机构： [Company/Lab Name]
Test Type 检测类型： [Whole Genome Sequencing / SNP Array / etc.]
Sample ID 样本编号： [Sample ID]
§ 1. ANCESTRY & TRAITS 祖源与性状
§ 1.1 Ancestry Composition 祖源成分
| Population 群体 |
Percentage 百分比 |
| [Chinese Han 中华民族] |
[XX.XX]% |
| [Northeast Asian 东北亚] |
[XX.XX]% |
| [Other 其他] |
[XX.XX]% |
Paternal Haplogroup 父系单倍群： [Haplogroup]
Maternal Haplogroup 母系单倍群： [Haplogroup]
Neanderthal Percentage 尼安德特人比例： [X.XX]%
§ 1.2 Physical Traits 体质特征
| Trait 特征 |
Result 结果 |
Genotype 基因型 |
| ABO Blood Type ABO 血型 |
[Type] |
[Genotype] |
| APOE Genotype APOE 基因型 |
[ε3/ε3] |
[Genotype] |
| Earwax Type 耳垢类型 |
[Dry/Wet] |
[Genotype] |
| Alcohol Flush Reaction 酒精脸红 |
[Yes/No] |
[Genotype] |
| Bitter Taste Sensitivity 苦味敏感 |
[Sensitive/Normal] |
[Genotype] |
| [Other traits 其他特征] |
[Result] |
[Genotype] |
§ 2. DISEASE RISK ASSESSMENT 疾病风险评估
Only high and moderate risk conditions are listed 仅列出高风险和中等风险疾病
§ 2.1 High Risk Conditions 高风险疾病
| Disease 疾病 |
Risk Level 风险等级 |
Key Variants 关键变异 |
Notes 备注 |
| [Disease] |
🔴 High Risk |
[rs123456 (A/G)] |
[Notes] |
§ 2.2 Moderate Risk Conditions 中等风险疾病
| Disease 疾病 |
Risk Level 风险等级 |
Key Variants 关键变异 |
Notes 备注 |
| [Disease] |
🟠 Moderate Risk |
[rs123456 (C/T)] |
[Notes] |
| Trait 特征 |
Result 结果 |
Genotype 基因型 |
Recommendation 推荐 |
| Lactose Metabolism 乳糖代谢能力 |
[Strong/Weak] |
[Gene: rs ID] |
[Brief note] |
| Caffeine Metabolism 咖啡因代谢能力 |
[Fast/Slow] |
[CYP1A2: rs762551] |
[Brief note] |
| Alcohol Metabolism 酒精代谢能力 |
[Strong/Weak] |
[ADH1B, ALDH2: rsID] |
[Brief note] |
| Carbohydrate Sensitivity 碳水化合物敏感性 |
[High/Medium/Low] |
[Genes: rs IDs] |
[Brief note] |
| Saturated Fat Sensitivity 饱和脂肪敏感性 |
[High/Medium/Low] |
[Genes: rs IDs] |
[Brief note] |
§ 3.2 Micronutrient Requirements 微量营养素需求
| Nutrient 营养素 |
Requirement 需求 |
Genotype 基因型 |
Notes 备注 |
| Folate 叶酸 |
[High/Normal] |
[MTHFR: rs ID] |
[Brief note] |
| Vitamin A 维生素 A |
[High/Normal] |
[BCMO1: rs ID] |
[Brief note] |
| Vitamin B12 维生素 B12 |
[High/Normal] |
[Gene: rs ID] |
[Brief note] |
| Vitamin C 维生素 C |
[High/Normal] |
[Gene: rs ID] |
[Brief note] |
| Vitamin D 维生素 D |
[High/Normal] |
[Gene: rs ID] |
[Brief note] |
| Vitamin E 维生素 E |
[High/Normal] |
[Gene: rs ID] |
[Brief note] |
| Vitamin K 维生素 K |
[High/Normal] |
[VKORC1: rs ID] |
[Brief note] |
| Calcium 钙 |
[High/Normal] |
[VDR: rs ID] |
[Brief note] |
| Iron 铁 |
[High/Normal] |
[Gene: rs ID] |
[Brief note] |
| Zinc 锌 |
[High/Normal] |
[Gene: rs ID] |
[Brief note] |
§ 4. EXERCISE & FITNESS 运动与健康
| Trait 特征 |
Result 结果 |
Genotype 基因型 |
Notes 备注 |
| Endurance 耐力 |
[High/Medium/Low] |
[ACE, etc.: rs ID] |
[Brief note] |
| Explosive Power 爆发力 |
[High/Medium/Low] |
[ACTN3: rs ID] |
[Brief note] |
| VO2 Max Improvement 最大摄氧量提升 |
[Large/Medium/Small] |
[PPARGC1A: rs ID] |
[Brief note] |
| Muscle Endurance 肌肉耐劳度 |
[High/Medium/Low] |
[Gene: rs ID] |
[Brief note] |
§ 4.2 Injury Risk 损伤风险
| Risk Type 风险类型 |
Risk Level 风险等级 |
Genotype 基因型 |
Notes 备注 |
| ACL Injury 膝盖前交叉韧带损伤 |
[High/Medium/Low] |
[Gene: rs ID] |
[Brief note] |
| Achilles Tendon 跟腱损伤 |
[High/Medium/Low] |
[Gene: rs ID] |
[Brief note] |
| Lumbar Disc 腰椎间盘损伤 |
[High/Medium/Low] |
[Gene: rs ID] |
[Brief note] |
§ 5. PHARMACOGENOMICS 药物基因组学
Only variants affecting drug metabolism are listed 仅列出影响药物代谢的变异
| Gene |
Alleles Detected 检测到的等位基因 |
Phenotype 表型 |
Clinical Impact 临床影响 |
| CYP2C19 |
[1/2, etc.] |
[IM/PM/RM/NM/UM] |
[Drug list] |
| CYP2D6 |
[1/4, etc.] |
[IM/PM/RM/NM/UM] |
[Drug list] |
| CYP2C9 |
[1/2, etc.] |
[IM/PM/RM/NM/UM] |
[Drug list] |
| SLCO1B1 |
[rs4149056] |
[Normal/Intermediate/Poor] |
[Statin response] |
| VKORC1 |
[rs9923231] |
[Normal/Sensitive] |
[Warfarin dosing] |
| G6PD |
[Variants] |
[Normal/Deficient] |
[Drug contraindications] |
Phenotype Abbreviations 表型缩写：
- UM: Ultrarapid Metabolizer 超快代谢
- RM: Rapid Metabolizer 快速代谢
- NM: Normal Metabolizer 正常代谢
- IM: Intermediate Metabolizer 中等代谢
- PM: Poor Metabolizer 慢代谢
§ 5.2 Drug-Specific Recommendations 具体药物推荐
Only drugs with genetic contraindications or dose adjustments needed 仅列出有基因禁忌或需调整剂量的药物
| Drug 药物 |
Genetic Finding 基因发现 |
Recommendation 推荐 |
| [Clopidogrel 氯吡格雷] |
[CYP2C19 2/2] |
🚫 Avoid / Consider alternative |
| [Warfarin 华法林] |
[VKORC1 variant] |
⚠️ Lower dose recommended |
| [Simvastatin] |
[SLCO1B1 variant] |
⚠️ Lower dose or alternative |
§ 6. HEREDITARY DISEASE CARRIER SCREENING 遗传病携带者筛查
Only positive carrier status is listed 仅列出阳性携带者状态
| Disease 疾病 |
Gene 基因 |
Carrier Status 携带者状态 |
Inheritance 遗传方式 |
Notes 备注 |
| [Disease] |
[GENE] |
🟡 Carrier |
Autosomal Recessive |
[Notes] |
If no carrier status: “No pathogenic variants detected for common hereditary conditions 未检测到常见遗传病致病变异”
§ 7. GENETIC VARIANTS REFERENCE 基因变异参考
§ 7.1 All Detected Variants 所有检测到的变异
Complete list of all genetic variants mentioned in this report 本报告中提及的所有基因变异完整列表
| Gene 基因 |
Variant ID 变异 ID |
Genotype 基因型 |
Type 类型 |
Associated Trait/Condition 相关性状/疾病 |
| [GENE] |
[rs12345678] |
[A/G] |
[SNP] |
[Trait/Disease] |
| [GENE] |
[rs87654321] |
[C/T] |
[Missense/Nonsense] |
[Trait/Disease] |
§ 7.2 Variant Type Definitions 变异类型定义
- SNP: Single Nucleotide Polymorphism 单核苷酸多态性
- Indel: Insertion/Deletion 插入/缺失
- CNV: Copy Number Variant 拷贝数变异
- Missense: Amino acid change 氨基酸改变
- Nonsense: Stop codon 终止密码子
- Frameshift: Reading frame shift 移码突变
§ 8. DATA SOURCE & QUALITY 数据来源与质量
§ 8.1 Source Files 源文件
| File Type 文件类型 |
File Name 文件名 |
Location 位置 |
Date 日期 |
| Original Report |
[filename] |
raw/[person]/genetic-testing/ |
[YYYY-MM-DD] |
| VCF/BAM (if any) |
[filename] |
raw/[person]/genetic-testing/ |
[YYYY-MM-DD] |
| This Report |
[YYYY.MMDD.md] |
processed/[person]/genetic-reports/ |
[YYYY-MM-DD] |
§ 8.2 Testing Methodology 检测方法
- Platform 平台： [Illumina / BGI / etc.]
- Coverage 覆盖度： [XX]x (if applicable)
- Total SNPs Analyzed 分析的 SNP 总数： [XXX,XXX]
- Reference Genome 参考基因组： [GRCh37/GRCh38]
§ 9. DISCLAIMERS 免责声明
Important Notes 重要说明：
- Genetic Risk ≠ Certainty 遗传风险 ≠ 确定性
- 基因数据仅提供风险倾向，实际健康状况受环境、生活方式等多种因素影响
- Genetic data only provides risk tendencies; actual health is influenced by environment, lifestyle, and other factors
- Not Medical Advice 非医疗建议
- 本报告仅供参考，不能替代专业医疗建议
- This report is for reference only and does not replace professional medical advice
- Consult Healthcare Provider 咨询医疗专业人员
- 任何基因发现应与医生或遗传咨询师讨论
- Discuss any genetic findings with a doctor or genetic counselor
- Data Evolves 数据持续更新
- 基因科学不断发展，建议每 2-3 年重新分析数据
- Genetic science evolves; recommend re-analysis every 2-3 years
§ 10. INTEGRATION WITH PHC 与个人健康记录整合
Recommended PHC Updates PHC 推荐更新：
| PHC Section PHC 章节 |
Update Action 更新行动 |
Priority 优先级 |
| Title II § 2.04 (CVD Risk) |
Add genetic risk data 添加基因风险数据 |
🔴 High |
| Title VI § 6.01 (Medications) |
Cross-check pharmacogenomics 交叉核对药物基因组学 |
🔴 High |
| Title VII § 7.02 (Family History) |
Note hereditary findings 记录遗传性发现 |
🟠 Medium |
| Title X § 10.01 (Treatment Goals) |
Incorporate genetic insights 整合基因洞察 |
🟠 Medium |
DOCUMENT CONTROL 文档控制
Version 版本： 1.0
Created 创建日期： [YYYY-MM-DD]
Last Updated 最后更新： [YYYY-MM-DD]
Extracted By 提取者： [Name/Tool]
Amendment History 修订历史：
| Version 版本 |
Date 日期 |
Changes 修改内容 |
| 1.0 |
[Date] |
Initial report |
END OF GENETIC HEALTH REPORT 基因健康报告结束