Maren Scheuner-Purcell, MD, MPH
Professor
Medicine
School of Medicine

Dr. Scheuner is a health services researcher and implementation scientist. Her research activities address the integration of genetic services and genetic testing into clinical practice. Areas of focus include genomic medicine care coordination, delivery models for clinical genetic services, equity in delivery of genomic medicine, and clinical validity and utility of genetic risk assessment tools.

Dr. Scheuner is a founding fellow of the American College of Medical Genetics and Genomics (ACMG). From 2013-2019 she served on the ACMG Board of Directors and was Vice President for Clinical Genetics. Since 2003, she has served as the ACMG representative to the national Blue Cross Blue Shield Association's Medical Advisory Panel. From 2014 - 2024 she served as Editor of the Health Services and Implementation Research section for the journal Genetics in Medicine.

• DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Bean LJH, Scheuner MT, Murray MF, Biesecker LG, Green RC, Monaghan KG, Palomaki GE, Sharp RR, Trotter TL, Watson MS, Powell CM, ACMG Board of Directors
• DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Murray MF, Giovanni MA, Doyle DL, Harrison SM, Lyon E, Manickam K, Monaghan KG, Rasmussen SA, Scheuner MT, Palomaki GE, Watson MS, ACMG Board of Directors
• A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
  Nature communications 2021 Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, …
• Identifying End Users' Preferences about Structuring Pharmacogenetic Test Orders in an Electronic Health Record System.
  The Journal of molecular diagnostics : JMD 2020 Hull LE, Vassy JL, Stone A, Chanfreau-Coffinier CC, Heise CW, Pratt VM, Przygodzki R, Voils CI, Voora D, Wang-Rodriguez J, Schichman SA, Scheuner MT
• Integrating Germline Genetics Into Precision Oncology Practice in the Veterans Health Administration: Challenges and Opportunities.
  Federal practitioner : for the health care professionals of the VA, DoD, and PHS 2020 Scheuner MT, Myrie K, Peredo J, Hoffman-Hogg L, Lundquist M, Guerra SL, Ball D
• Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
  Nature genetics 2020 Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O'Mara TA, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ…
• Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR, ACMG Professional Practice and Guidelines Committee
• Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J, ACMG Professional Practice and Guidelines Committee
• Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
  Nature genetics 2020 Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, …
• The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
  NPJ breast cancer 2019 Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM, ABCTB Investigators, Adank MA, Adlard J, …
• An electronic family health history tool to identify and manage patients at increased risk for colorectal cancer: protocol for a randomized controlled trial.
  Trials 2019 Goldstein KM, Fisher DA, Wu RR, Orlando LA, Coffman CJ, Grubber JM, Rakhra-Burris T, Wang V, Scheuner MT, Sperber N, Datta SK, Nelson RE, Strawbridge E, Provenzale D, Hauser ER, Voils CI
• Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
  British journal of cancer 2019 Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, …
• A case of Fragile X-associated tremor/ataxia syndrome (FXTAS).
  Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 Mishra SK, Khosa S, Trikamji B, Khanli HM, Scheuner MT, Jamal NI, Hanssen AM
• Response to Gammal et al.
  Genetics in medicine : official journal of the American College of Medical Genetics 2019 Vassy JL, Stone A, Callaghan JT, Mendes M, Meyer LJ, Pratt VM, Przygodzki RM, Scheuner MT, Wang-Rodriguez J, Schichman SA, VHA Clinical Pharmacogenetics Subcommittee
• Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Scheuner MT, Russell MM, Chanfreau-Coffinier C, Peredo J, Yano EM, Hamilton AB, Lerner B, Provenzale D, Knight SJ, Voils CI
• A logic model for precision medicine implementation informed by stakeholder views and implementation science.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Chanfreau-Coffinier C, Peredo J, Russell MM, Yano EM, Hamilton AB, Lerner B, Provenzale D, Knight SJ, Voils CI, Scheuner MT
• Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Vassy JL, Stone A, Callaghan JT, Mendes M, Meyer LJ, Pratt VM, Przygodzki RM, Scheuner MT, Wang-Rodriguez J, Schichman SA, VHA Clinical Pharmacogenetics Subcommittee
• Precision Medicine for CRC Patients in the Veteran Population: State-of-the-Art, Challenges and Research Directions.
  Digestive diseases and sciences 2018 Mohapatra SS, Batra SK, Bharadwaj S, Bouvet M, Cosman B, Goel A, Jogunoori W, Kelley MJ, Mishra L, Mishra B, Mohapatra S, Patel B, Pisegna JR, Raufman JP, Rao S, Roy H, Scheuner M, Singh S, Vidyarthi …
• Basic vs More Complex Definitions of Family History in the Prediction of Coronary Heart Disease: The Multi-Ethnic Study of Atherosclerosis.
  Mayo Clinic proceedings 2018 Patel J, Al Rifai M, Scheuner MT, Shea S, Blumenthal RS, Nasir K, Blaha MJ, McEvoy JW
• Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.
  JIMD reports 2018 Zeiger WA, Jamal NI, Scheuner MT, Pittman P, Raymond KM, Morra M, Mishra SK
• The value of genetic testing: beyond clinical utility.
  Genetics in medicine : official journal of the American College of Medical Genetics 2016 Lerner B, Marshall N, Oishi S, Lanto A, Lee M, Hamilton AB, Yano EM, Scheuner MT
• Electronic health record interventions at the point of care improve documentation of care processes and decrease orders for genetic tests commonly ordered by nongeneticists.
  Genetics in medicine : official journal of the American College of Medical Genetics 2016 Scheuner MT, Peredo J, Tangney K, Schoeff D, Sale T, Lubick-Goldzweig C, Hamilton A, Hilborne L, Lee M, Mittman B, Yano EM, Lubin IM
• Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.
  Oral surgery, oral medicine, oral pathology and oral radiology 2016 Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, Christensen R, Tajima TL, Leung AM, Mallya SM
• Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record.
  Surgical oncology clinics of North America 2015 Venne VL, Scheuner MT
• Coronary Artery Calcium Improves Risk Assessment in Adults With a Family History of Premature Coronary Heart Disease: Results From Multiethnic Study of Atherosclerosis.
  Circulation. Cardiovascular imaging 2015 Patel J, Al Rifai M, Blaha MJ, Budoff MJ, Post WS, Polak JF, Bluemke DA, Scheuner MT, Kronmal RA, Blumenthal RS, Nasir K, McEvoy JW
• Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach.
  Genetics in medicine : official journal of the American College of Medical Genetics 2015 Oishi SM, Marshall N, Hamilton AB, Yano EM, Lerner B, Scheuner MT
• Reporting genomic secondary findings: ACMG members weigh in.
  Genetics in medicine : official journal of the American College of Medical Genetics 2014 Scheuner MT, Peredo J, Benkendorf J, Bowdish B, Feldman G, Fleisher L, Mulvihill JJ, Watson M, Herman GE, Evans J
• Delivery of clinical genetic consultative services in the Veterans Health Administration.
  Genetics in medicine : official journal of the American College of Medical Genetics 2014 Scheuner MT, Marshall N, Lanto A, Hamilton AB, Oishi S, Lerner B, Lee M, Yano EM
• Factors influencing organizational adoption and implementation of clinical genetic services.
  Genetics in medicine : official journal of the American College of Medical Genetics 2013 Hamilton AB, Oishi S, Yano EM, Gammage CE, Marshall NJ, Scheuner MT
• A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians.
  Genetics in medicine : official journal of the American College of Medical Genetics 2013 Scheuner MT, Hamilton AB, Peredo J, Sale TJ, Austin C, Gilman SC, Bowen MS, Goldzweig CL, Lee M, Mittman BS, Yano EM
• Effective communication of molecular genetic test results to primary care providers.
  Genetics in medicine : official journal of the American College of Medical Genetics 2012 Scheuner MT, Edelen MO, Hilborne LH, Lubin IM, RAND Molecular Genetic Test Report Advisory Board
• Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial.
  Trials 2012 Voils CI, Coffman CJ, Edelman D, Maciejewski ML, Grubber JM, Sadeghpour A, Cho A, McKenzie J, Blanpain F, Scheuner M, Sandelowski M, Gallagher MP, Ginsburg GS, Yancy WS
• A report template for molecular genetic tests designed to improve communication between the clinician and laboratory.
  Genetic testing and molecular biomarkers 2012 Scheuner MT, Hilborne L, Brown J, Lubin IM, members of the RAND Molecular Genetic Test Report Advisory Board
• Multilevel research and the challenges of implementing genomic medicine.
  Journal of the National Cancer Institute. Monographs 2012 Khoury MJ, Coates RJ, Fennell ML, Glasgow RE, Scheuner MT, Schully SD, Williams MS, Clauser SB
• A graphical method for assessing risk factor threshold values using the generalized additive model: the multi-ethnic study of atherosclerosis.
  Health services & outcomes research methodology 2012 Setodji CM, Scheuner M, Pankow JS, Blumenthal RS, Chen H, Keeler E
• Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting.
  Genetics in medicine : official journal of the American College of Medical Genetics 2011 Bellcross CA, Bedrosian SR, Daniels E, Duquette D, Hampel H, Jasperson K, Joseph DA, Kaye C, Lubin I, Meyer LJ, Reyes M, Scheuner MT, Schully SD, Senter L, Stewart SL, St Pierre J, Westman J, Wise P, …
• Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey.
  Genetics in medicine : official journal of the American College of Medical Genetics 2010 Scheuner MT, McNeel TS, Freedman AN
• General Cardiovascular Risk Profile identifies advanced coronary artery calcium and is improved by family history: the multiethnic study of atherosclerosis.
  Circulation. Cardiovascular genetics 2009 Scheuner MT, Setodji CM, Pankow JS, Blumenthal RS, Keeler E
• Are electronic health records ready for genomic medicine?
  Genetics in medicine : official journal of the American College of Medical Genetics 2009 Scheuner MT, de Vries H, Kim B, Meili RC, Olmstead SH, Teleki S
• The beginning of the second decade of the era of patient safety: implications and roles for the clinical laboratory and laboratory professionals.
  Clinica chimica acta; international journal of clinical chemistry 2009 Hilborne LH, Lubin IM, Scheuner MT
• Developing Family Healthware, a family history screening tool to prevent common chronic diseases.
  Preventing chronic disease 2008 Yoon PW, Scheuner MT, Jorgensen C, Khoury MJ
• Relation of familial patterns of coronary heart disease, stroke, and diabetes to subclinical atherosclerosis: the multi-ethnic study of atherosclerosis.
  Genetics in medicine : official journal of the American College of Medical Genetics 2008 Scheuner MT, Setodji CM, Pankow JS, Blumenthal RS, Keeler E
• Delivery of genomic medicine for common chronic adult diseases: a systematic review.
  JAMA 2008 Scheuner MT, Sieverding P, Shekelle PG
• Family history of premature coronary heart disease and coronary artery calcification: Multi-Ethnic Study of Atherosclerosis (MESA).
  Circulation 2007 Nasir K, Budoff MJ, Wong ND, Scheuner M, Herrington D, Arnett DK, Szklo M, Greenland P, Blumenthal RS
• Expanding the definition of a positive family history for early-onset coronary heart disease.
  Genetics in medicine : official journal of the American College of Medical Genetics 2006 Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ
• Familial risk assessment for early-onset coronary heart disease.
  Genetics in medicine : official journal of the American College of Medical Genetics 2006 Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ
• Haplotypes in the lipoprotein lipase gene influence high-density lipoprotein cholesterol response to statin therapy and progression of atherosclerosis in coronary artery bypass grafts.
  The pharmacogenomics journal 2006 Goodarzi MO, Taylor KD, Scheuner MT, Antoine HJ, Guo X, Shah PK, Rotter JI
• Quantifying the health benefits of genetic tests: a clinical perspective.
  Genetics in medicine : official journal of the American College of Medical Genetics 2006 Scheuner MT, Rotter JI
• Family history of type 2 diabetes: a population-based screening tool for prevention?
  Genetics in medicine : official journal of the American College of Medical Genetics 2006 Hariri S, Yoon PW, Qureshi N, Valdez R, Scheuner MT, Khoury MJ
• Lipoprotein lipase locus and progression of atherosclerosis in coronary-artery bypass grafts.
  Genetics in medicine : official journal of the American College of Medical Genetics 2004 Taylor KD, Scheuner MT, Yang H, Wang Y, Haritunians T, Fischel-Ghodsian N, Shah PK, Forrester JS, Knatterud G, Rotter JI
• Clinical application of genetic risk assessment strategies for coronary artery disease: genotypes, phenotypes, and family history.
  Primary care 2004 Scheuner MT
• Contribution of Mendelian disorders to common chronic disease: opportunities for recognition, intervention, and prevention.
  American journal of medical genetics. Part C, Seminars in medical genetics 2004 Scheuner MT, Yoon PW, Khoury MJ
• Genetic evaluation for coronary artery disease.
  Genetics in medicine : official journal of the American College of Medical Genetics 2003 Scheuner MT
• Family history: where to go from here.
  Genetics in medicine : official journal of the American College of Medical Genetics 2003 Scheuner MT
• Research priorities for evaluating family history in the prevention of common chronic diseases.
  American journal of preventive medicine 2003 Yoon PW, Scheuner MT, Khoury MJ
• Can family history be used as a tool for public health and preventive medicine?
  Genetics in medicine : official journal of the American College of Medical Genetics 2002 Yoon PW, Scheuner MT, Peterson-Oehlke KL, Gwinn M, Faucett A, Khoury MJ
• Genetic predisposition to coronary artery disease.
  Current opinion in cardiology 2001 Scheuner MT
• Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing.
  Journal of medical genetics 2001 Gad S, Scheuner MT, Pages-Berhouet S, Caux-Moncoutier V, Bensimon A, Aurias A, Pinto M, Stoppa-Lyonnet D
• Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
  European journal of human genetics : EJHG 2001 Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T
• A familial risk profile for osteoporosis.
  Genetics in medicine : official journal of the American College of Medical Genetics 2000 Henderson LB, Adams JS, Goldstein DR, Braunstein GD, Rotter JI, Scheuner MT
• Clinical validation of genetic tests.
  Genetics in medicine : official journal of the American College of Medical Genetics 2000 Scheuner MT
• Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood.
  American journal of medical genetics 1997 Scheuner MT, Wang SJ, Raffel LJ, Larabell SK, Rotter JI
• P1148A in fibrillin-1 is not a mutation anymore.
  Nature genetics 1997 Wang M, Mathews KR, Imaizumi K, Beiraghi S, Blumberg B, Scheuner M, Graham JM, Godfrey M