Juan-Sebastian Saldivar, MD, FACMG
Interests include non-invasive prenatal testing, liquid biopsy and solid tumor prognostic/theranostic genotyping and minimal residual disease monitoring, inheritable cancer predisposition syndromes, and personalized medicine.
Education
HARVARD/PARTNERS CENTER FOR HUMAN GENETICS AND GENOMICS
Medical Genetics and Molecular Genetics fellowships, 2000-2003
UT SOUTHWESTERN/PARKLAND FAMILY MEDICINE RESIDENCY PROGRAM
Resident, 1997-2000 (Chief Resident, 2000)
UT SOUTHWESTERN MEDICAL SCHOOL
MD, 1993-1997
BOSTON UNIVERSITY
BS Economics, Biology minor, 1989-1993
Certifications
Diplomate of the American Board of Genetics and Genomics in Clinical Molecular Genetic, expires 2025
Diplomate of the American Board of Pathology and American Board of Genetics and Genomics in Molecular Genetic Pathology, expires 2027
Licensure
California Physician and Surgeon license, expires May 2025
California Clinical Genetic Molecular Biologist license, expires May 2025
New York Certificate of Qualification in Molecular Genetics and Oncology (Molecular and Cellular Tumor Markers), expires June 2025
Affiliations
Fellow of the American College of Medical Genetics
Member of the Association for Molecular Pathology
Member of the College of American Pathologists
Publications
J-S Saldivar, J Harris, E Ayash, M Hong, P Tandon, S Sinha, P Hebron, E Houghton, K Thorne, L Goodman, C Li, T Marfata, J Anderson, M Morra, J Lyle, G Bartha, and R Chen, Analytic validation of NeXT Dx, a comprehensive genomic profiling assay, Oncotarget, 2023, 14:789-806
Yeh YA, Yang S, Constantinescu M, Chaudoir C, Tanner A, Henry M, Anderson S, Saldivar JS, Serkin F, Fasili T, Lurie AA, and Yu X, Prostatic adenocarcinoma with novel NTRK3 gene fusion: a case report, Am J of Clin and Exp Urology, 14 Oct 2019, 7(5):341-345
Olson, MC, Maciel A, Gariepy JF, Cullors A, Saldivar JS, Taylor D, Centeno J, Garces JA, Vaishnavi S. Clinical Impact of Pharmacogenetic-Guided Treatment for Patients Exhibiting Neuropsychiatric Disorders: A randomized Controlled Trial, Prim Care Companion CNS Disord. 2017 Mar 16;19(2). doi: 10.4088/PCC.16m02036.
N Suzumori, T Ebara, T Yamada, O Samura, J Yotsumoto, M Nishiyama, K Miura, H Sawai, J murotsuki, M Kitagawa, Y Kamei, H Masuzaki, F Hirahara, J-S Saldivar, N Dharajiya, H Sago,a nd A Sekizawa, Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy, J. Hum. Genet. Epub 2016 Mar 17.
Saldivar JS, Taylor D, Sugarman EA, Cullors A, Garces JA, Oades K, and Centeno J, Initial assessment of the benefits of implementing pharmacogenetics into the medical management of patients in a long-term care facility, Pharmacogenomics and Personalized Medicine, 2016:9 1-6, http://dx.doi.org/10.2147/PGPM.S93480.
Nilesh G. Dharajiya, Akira Namba, Isao Horiuchi, Shunsuke Miyai, Daniel H. Farkas, Eyad Alsmari, Juan-Sebastian Saldivar, Kenjiro Takagi and Yoshimasa Kamei. Uterine leiomyoma confounding a noninvasive prenatal test result, Prenatal Diagnosis (2015), 35: 990-993.
J. Jelgeson, J. Wardrop, T. Boomer, E. Almasri, W.B. Paxton, J.S. Saldivar, N. Dharajiya, T.J. Monroe, D.H. Farkas, D.S. Grosu, and R.M. McCullough. Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing, Prenatal Diagnosis (2015), 35: 999-1004, doi: 10.1002/pd.4640.
Sarah L. Kinnings, Jennifer A. Geis, Eyad Almasri, Huiquan Wang, Xiaojun Guan, Ron M. McCullough, Allan T. Bombard, Juan-Sebastian Saldivar, Paul Oeth, Cosmin Deciu, and Timothy Burcham, Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing, Prenatal Diagnosis (2015), 35: 1-7.
Julie Jesiolowski, Thomas Monroe, Courtney Fitch, Jenna Wardrop, Theresa Boomer, and Juan-Sebastian Saldivar, NIPT for detection of subchromosomal deletions and duplications, Contemp. OB/GYN, March, 2015, p.38-39.
Chen Zhao, John Tynan, Mathias Ehrich, Gregory Hannum, Ron McCullough, Juan-Sebastian Saldivar, Paul Oeth, Dirk van den Boom, and Cosmin Deciu, Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma, Clin Chem (2015). Doi:10.1373/clinchem.no14.233312.
Dharajiya, N., Zwiefelhofer, T., Guan, X., Angkachatchai, V., and Saldivar J.S. 2015. Noninvasive Prenatal Testing Using Cell-Free Fetal DNA in Maternal Plasma. Curr. Protoc. Hum. Genet. 84:8.15.1-8.15.20.
McCullough RM, Almasri EA, Guan X, Geis JA, Hicks SC, Mazloom A, Deciu C, Oeth P, Bombard AT, Paxton B, Dharajiya N, Saldivar J-S. Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples. PLoS ONE (2014) 9(10): e109173. doi:10.1371/journal.pone.0109173.
A. Mazloom, Z. Dzakula, Paul Oeth, H. Wang, T. Jensen, J. Tynan, R. McCullough, J-SSaldivar, M. Ehrich, D. van den Boom, A. Bombard, M. Maeder, G. McLennan, W. Meschino, G. E. Palomaki, J. Canick and C. Deciu, Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma, Prenatal Diagnosis (2013), 33: 591–597.
Kevin S. Scher, Juan-Sebastian Saldivar, Michael Fishbein, Alberto Marchevsky, Karen L. Reckamp, EGFR Mutated Lung Cancer with T790M Acquired Resistance in the Brain and Histologic Transformation in the Lung, (2013);11:1040-1044 J Natl Compr Canc Netw (2013), 11:1040-1044.
N. Lindeman, P. Cagle, MB Beasley, DA Chitale, S. Dacic, G. Giaccone, RB Jenkins, D. Kwiatikowski, J-S Saldivar, J. Squire, E. Thunnissen, and M. Ladanyi, Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors, J. Mol. Diag. (2013), 15(4): 415-453.
Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, Saldivar JS, Beattie M, Feldman N, Sand S, Port D, Barragan DI, John EM, Neuhausen SL, Larson GP. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol (2013) 10;31(2):210-6.
G. Kuwaik, J-S Saldivar, G. Yoon, Novel Mutation in ARX Associated with Early Hand preference and a Mild Phenotype. J. Dev. Behav. Pediatr. (2012) Aug 23; 22922607.
A. Sorrell, C. Espenschied, W. Wang, J. Weitzel, S. Chu, P. Parker, S. Saldivar, R. Bhatia, Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype, IJCM. (2012), online, doi:10.4236/ijcm.2012.
Li Xiao, Juan-Sebastian Saldivar, Cuilan Zhou, Chengli Chen, Lia Zhang, Pierre Sirois, and Kai Li, The Updated Concept of Genome and Its Implications in Biotechnological Research and Molecular Diagnostics. Mol. Biotech. (2009), 41:152-156.
Zhenbin Chen, Jinong Feng, Juan-Sebastian Saldivar, Dongqing Gu, Anke Bockholt, and Steve S. Sommer, EGFR somatic doublets in lung cancer are frequent and generally arise from a pair of driver mutations uncommonly seen as singlet mutations: One third of doublets occur at five pairs of amino acids. Oncogene (2008), 27(31):4336-4.
Kelly Gonzalez, Carolyn Buzin, Cindy Fong, Steve Sommer, and Juan-Sebastian Saldivar, p53 testing for Li-Fraumeni and Li-Fraumeni-like syndromes. Current Protocols in Human Genetics (2008), Chapter 10: Unit 10.10.
Amy Lawson-Yuen, Juan-Sebastian Saldivar, Steve Sommer, and Jonathan Picker, Familial deletion within NLGN4 associated with Autism and Tourette Syndrome. European Journal of Human Genetics (2008), 16(5):614-8.
Dongqing Gu, William A. Scaringe, Kai Li, Juan-Sebastian Saldivar, Kathleen A. Hill, Zhenbin Chen, and Steve S. Sommer, Database of EGFR somatic mutations in lung cancer: microindel hotspots, no mutagen signature of smoking and elevated microdeletions/microindels in responders to tyrosine kinase inhibitors. Human Mutation (2007), 28(8):760-770.
Juan-Sebastian Saldivar and Steve S. Sommer, Comprehensive mutation analysis of CFTR channelopathies, Pediatric Pulmonology (2006), 41(S29):106-7.
Jia Zhang, Zhou Cuilan, Yufang Yin, Jose R. Pardinas, Liu Tingting, Hanlin Gao, Juan-Sebastian Saldivar, Steve S. Sommer, Kai Li, Detection of known mutations with DNA polymerases: its pharmacogenetic applications, Current Pharmacogenomics (2006), 4(2):121-131.
Juan-Sebastian Saldivar, Zhenbin Chen, and Steve Sommer, EGF receptor testing for non-small cell lung carcinomas. Current Protocols in Human Genetics (2006), Chapter 10: Unit 10.9.