August 2022; 8 (4) Research ArticleOpen Access
Genome Sequencing in the Parkinson Disease Clinic
View ORCID ProfileEmily J. Hill, View ORCID ProfileLaurie A. Robak, Rami Al-Ouran, View ORCID ProfileJennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, View ORCID ProfileHarshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, View ORCID ProfileZhandong Liu, Richard A. Gibbs, View ORCID ProfileChad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman
First published June 20, 2022, DOI: https://doi.org/10.1212/NXG.0000000000200002
Emily J. Hill
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Laurie A. Robak
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Rami Al-Ouran
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Jennifer Deger
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Jamie C. Fong
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Paul Jerrod Vandeventer
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Emily Schulman
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Sindhu Rao
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Hiba Saade
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Joseph M. Savitt
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Rainer von Coelln
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Neeja Desai
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Harshavardhan Doddapaneni
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Sejal Salvi
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Shannon Dugan-Perez
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Donna M. Muzny
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Amy L. McGuire
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Zhandong Liu
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Richard A. Gibbs
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Chad Shaw
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Joseph Jankovic
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Lisa M. Shulman
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Joshua M. Shulman
From the Department of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Genome Sequencing in the Parkinson Disease Clinic
Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman
Neurol Genet Aug 2022, 8 (4) e200002; DOI: 10.1212/NXG.0000000000200002
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Figures
- Figure 1 Sample PD Genome Sequencing Report
This report represents the most common results based on application of our customized PD gene panel (see also eTable 1, links.lww.com/NXG/A530, for all genes included in categories 1–3).
- Figure 2 Genetic Risk Score Distribution
Density plot for the PD genetic risk score. Z scores reflect standard deviations from the mean. The low- and high-risk groups are indicated by dashed lines, highlighting cutoffs for the first and fifth quintiles, respectively. PD = Parkinson disease.
- Figure 3 Survey Results
Results from survey questions gauging subject interest in comprehensive genetic testing at baseline (A) or following several clinical vignettes, including disclosure of an LRRK2 variant (B, vignette 1), GBA variant (C, vignette 2), genetic risk score (D, vignette 3), or secondary, medically actionable finding unrelated to PD (E, vignette 4). The survey responses for “interest level” (A and C), included 1, “not interested”; 2, “a little interested”; 3, “moderately interested”; and 4, “very interested.” For “change in interest” (B, C, and E), responses included 1, “much less interested”; 2, “a little less interested”; 3, “no change”; 4, “a little more interested”; and 5, “much more interested.” Most subjects reported no change or increased interest in genetic testing following disclosures. For complete survey and all results, see eMethods and eTable 4 (links.lww.com/NXG/A530). PD = Parkinson disease.
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