Human Genetics

, Volume 135, Issue 6, pp 591–601 | Cite as

Clinical genomics: from a truly personal genome viewpoint

  • James R. Lupski
Part of the following topical collections:
  1. Exome Sequencing


The path to Clinical Genomics is punctuated by our understanding of what types of DNA structural and sequence variation contribute to disease, the many technical challenges to detect such variation genome-wide, and the initial struggles to interpret personal genome variation in the context of disease. This review describes one perspective of the development of clinical genomics; whereas the experimental challenges, and hurdles to overcoming them, might be deemed readily apparent, the non-technical issues for clinical implementation may be less obvious. Some of these latter challenges, including: (1) informed consent, (2) privacy, (3) what constitutes potentially pathogenic variation contributing to disease, (4) disease penetrance in populations, and (5) the genetic architecture of disease, and the struggles sometimes faced for solutions, are highlighted using illustrative examples.


Copy Number Variation Whole Genome Sequencing Whole Exome Sequencing Persistent Vegetative State Personal Genome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Thanks to the Clinical Genomics pioneers, and to my colleagues in genetics and genomics at Baylor College of Medicine for their continued spirit of collaboration and collegiality. My gratitude is also extended to all members past and present in the Lupski Lab for their efforts and insights. The Lupski Laboratory is currently funded by the National Institute of Neurological Disease and Stroke (NINDS, R01NS058529), the National Institute of General Medical Sciences (NIGMS, R01GM106373), the National Human Genome Research Institute/National Heart Lung and Blood Institute Baylor Hopkins Center for Mendelian Genomics (NHGRI/NHLBI, U54HG006542), and the Smith Magenis Research Foundation; this work was also supported in part by NHGRI (U54HG003723) and the Intellectual and Developmental Disabilities Research Center, IDDRC (NICHD HD083092, Clinical Translational Core).

Compliance with ethical standards

Conflict of interest

J. R. L. is a paid consultant for Regeneron Pharmaceuticals, holds stock ownership in 23andMe and Lasergen, Inc., is on the scientific advisory board of Baylor Miraca Genetics Laboratories, and is a co-inventor on United States and European patents related to molecular diagnostics. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from molecular genetic testing offered at the Baylor Miraca Genetics Laboratories (BMGL;


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  2. 2.Department of PediatricsBaylor College of MedicineHoustonUSA
  3. 3.Human Genome Sequencing CenterBaylor College of MedicineHoustonUSA
  4. 4.Texas Children’s HospitalHoustonUSA

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