Enhancing genomic laboratory reports from the patients' view: A qualitative analysis

American Journal of Medical Genetics, Part A

Volumn 167, Issue 10, 2015, Pages 2238-2243

  Stuckey, Heather ^a   Williams, Janet L ^b   Fan, Audrey L ^b   Rahm, Alanna Kulchak ^b   Green, Jamie ^c   Feldman, Lynn ^d   Bonhag, Michele ^e   Zallen, Doris T ^f   Segal, Michael M ^d   Williams, Marc S ^b  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b Geisinger/Healthsouth Sports Medicine Center   (United States)

^c Center for Health Research   (United States)

^d SimulConsult Inc   (United States)

^e Chase Group Ltd   (United States)

^f VIRGINIA POLYTECHNIC INSTITUTE AND STATE UNIVERSITY   (United States)

Author keywords

Genomics; Health literacy; Laboratory reports; Patient communication; Shared decision making

Indexed keywords

ARTICLE; GENOME ANALYSIS; GENOMICS; HUMAN; INTERPERSONAL COMMUNICATION; LABORATORY; LANGUAGE; MEDICAL DOCUMENTATION; PARENT; PATIENT INFORMATION; PRIORITY JOURNAL; PROGNOSIS; QUALITATIVE ANALYSIS; SEQUENCE ANALYSIS; ADULT; CHILD; CHROMOSOMAL MAPPING; DOCTOR PATIENT RELATION; ETHICS; GENETIC SCREENING; GENETICS; GENOME-WIDE ASSOCIATION STUDY; INFORMATION PROCESSING; INTELLECTUAL DISABILITY; NOMENCLATURE; PATHOLOGY; PSYCHOLOGY; QUALITATIVE RESEARCH; QUESTIONNAIRE; RESEARCH; TRENDS;

ADULT; CHILD; CHROMOSOME MAPPING; FOCUS GROUPS; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTELLECTUAL DISABILITY; PARENTS; PHYSICIAN-PATIENT RELATIONS; PROGNOSIS; QUALITATIVE RESEARCH; RESEARCH REPORT; SURVEYS AND QUESTIONNAIRES; TERMINOLOGY AS TOPIC;

EID: 84941260593     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37174     Document Type: Article

References (15)

1. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie DJr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY challenge. Genome Biol 15: R53-2014-15-3-r53.
2. Emery A, Rimoin D. 1990. Principles and practice of medical genetics. New York: Churchill Livingston. e375-e376.
3. Haga SB, Mills R, Pollak KI, Rehder C, Buchanan AH, Lipkus IM, Crow JH, Datto M. 2014. Developing patient-friendly genetic and genomic test reports: Formats to promote patient engagement and understanding. Genome Med 6: 58-014-0058-6. eCollection.
4. Hammond EH, Flinner RL. 1997. Clinically relevant breast cancer reporting: Using process measures to improve anatomic pathology reporting. Arch Pathol Lab Med 121:1171-1175.
5. Laposata ME, Laposata M, Van Cott EM, Buchner DS, Kashalo MS, Dighe AS. 2004. Physician survey of a laboratory medicine interpretive service and evaluation of the influence of interpretations on laboratory test ordering. Arch Pathol Lab Med 128:1424-1427.
6. Lautenbach DM, Christensen KD, Sparks JA, Green RC. 2013. Communicating genetic risk information for common disorders in the era of genomic medicine. Annu Rev Genomics Hum Genet 14:491-513.
7. Levy HP, LoPresti L, Seibert DC. 2008. Twenty questions in genetic medicine-an assessment of world wide web databases for genetics information at the point of care. Genet Med 10:659-667.
8. Lubin IM, McGovern MM, Gibson Z, Gross SJ, Lyon E, Pagon RA, Pratt VM, Rashid J, Shaw C, Stoddard L, Trotter TL, Williams MS, Amos Wilson, . 2009. Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report. J Mol Diagn 11:162-171.
9. McGee J 2010. Toolkit for making written material clear and effective. Part 4, Chapter 3. Baltimore: MD: Centers for Medicare & Medicaid Services. pp 40-71.
10. Packer MJ, Addison RB. 1989. Entering the circle: Hermeneutic investigation in psychology. Albany: State University of New York Press.
11. Rare Disease Foundation. http://www.rarediseasefoundation.org/patient_and_family_support.
12. Scheuner MT, Edelen MO, Hilborne LH, Lubin IM. 2013. RAND Molecular Genetic Test Report Advisory Board. Effective communication of molecular genetic test results to primary care providers. Genet Med 15:444-449.
13. Scheuner MT, Hilborne L, Brown J, Lubin IM. Members of the RAND Molecular Genetic Test Report Advisory Board. 2012. A report template for molecular genetic tests designed to improve communication between the clinician and laboratory. Genet Test Mol Biomarkers 16:761-769.
14. Wilson J 1999. Acknowledging the expertise of patients and their organisations. BMJ 319:771-774.
15. Zallen DT 1997. Does it run in the family?: A consumer's guide to DNA testing for genetic disorders. Rutgers University Press. pp 39-56.