Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases

被引：1

作者：

Li, Guozhuang ^{[1
,2
,3
]}

Xu, Kexin ^{[1
,2
,3
]}

Yin, Xiangjie ^{[1
,2
,3
]}

Yang, Jianle ^{[1
,2
,3
]}

Cai, Jihao ^{[1
,2
,3
]}

Yang, Xinyu ^{[1
,2
,3
]}

Li, Qing ^{[1
,2
,3
]}

Wang, Jie ^{[1
,2
,3
]}

Zhao, Zhengye ^{[1
,2
,3
]}

Mahesahti, Aoran ^{[1
,2
,3
]}

Zhang, Ning ^{[1
,2
,3
]}

Zhang, Terry Jianguo ^{[1
,2
,3
,4
]}

Wu, Nan ^{[1
,2
,3
,4
]}

机构：

[1] Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Orthoped Surg, 1 Shuaifuyuan, Beijing 100730, Peoples R China

[2] Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China

[3] Chinese Acad Med Sci, Key Lab Big Data Spinal Deform, Beijing 100730, Peoples R China

[4] Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Beijing 100730, Peoples R China

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2024年 / 19卷 / 01期

关键词：

Deep phenotyping; Rare bone diseases; Precision medicine; Human Phenotype Ontology (HPO); Genetic testing; Genetic counseling; Multidisciplinary team (MDT); VARIANTS;

D O I：

10.1186/s13023-024-03367-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Phenotypes play a fundamental role in medical genetics, serving as external manifestations of underlying genotypes. Deep phenotyping, a cornerstone of precision medicine, involves precise multi-system phenotype assessments, facilitating disease subtyping and genetic understanding. Despite their significance, the field lacks standardized protocols for accurate phenotype evaluation, hindering clinical comprehension and research comparability. We present a comprehensive workflow of deep phenotyping for rare bone diseases from the Genetics Clinic of Skeletal Deformity at Peking Union Medical College Hospital. Our workflow integrates referral, informed consent, and detailed phenotype evaluation through HPO standards, capturing nuanced phenotypic characteristics using clinical examinations, questionnaires, and multimedia documentation. Genetic testing and counseling follow, based on deep phenotyping results, ensuring personalized interventions. Multidisciplinary team consultations facilitate comprehensive patient care and clinical guideline development. Regular follow-up visits emphasize dynamic phenotype reassessment, ensuring treatment strategies remain responsive to evolving patient needs. In conclusion, this study highlights the importance of deep phenotyping in rare bone diseases, offering a standardized framework for phenotype evaluation, genetic analysis, and multidisciplinary intervention. By enhancing clinical care and research outcomes, this approach contributes to the advancement of precision medicine in the field of medical genetics.

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