QIAGEN eBook - 18

Interpreting NGS Tests for Inherited Disorders: Three trends that will change everything

Enabling patient empowerment

References

Until recently, genetic testing results were most often

1. Heath S. Patient Portal Adoption Tops 90%, Patient Registrations Lag.
Patient Data Access News. 11 April 2019. https://patientengagementhit.
com/news/patient-portal-adoption-tops-90-patient-registrations-lag

verbally communicated by a provider or genetic
counselor, and the patient did not receive a copy
of the report unless requested. Now, with the rise
of digital healthcare and the patient portal, patients
have real-time access to all of their medical data.
There is no doubt that the United States
healthcare system is moving towards a landscape
of patient empowerment. American patients are
demanding access to their health data so they can
make informed decisions about where and how
they receive care. Today, it is more important than
ever to provide patients, and their non-specialist
healthcare providers, with clear, easy-tounderstand genetic testing reports.

2. Richards S, Aziz N, Bick D, Das S, Gastier-Foster J, Bick D, et al.
Standards and guidelines for the interpretation of sequence variants: a
joint consensus recommendation of the American College of Medical
Genetics and Genomics and the Association for Molecular Pathology.
Genet Med 2015;17:405-23.
3. Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, et al.
Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet.
2016;24:2-5.
4. Smith K, Martindale J, Wallis Y, Bown N, Leo N, Creswell L, et al.
General genetic laboratory reporting recommendations. Birmingham:
Association for Clinical Genetic Science: 2015.
5. Tang PC, Ash JS, Bates DW, Overhage JM, Sands DZ: Personal health
records: definitions, benefits, and strategies for overcoming barriers to
adoption. J Am Med Inform Assoc. 2006, 13: 121-126.
6. Lubin IM, McGovern MM, Gibson Z, Gross SJ, Lyon E, Pagon RA, et
al. Clinician perspectives about molecular genetic testing for heritable
conditions and development of a clinician-friendly laboratory report. J
Mol Diagnostics. 2009;11:162-71.
7. Haga SB, Mills R, Pollak KI, Rehder C, Buchanan AH, Lipkus IM, et al.
Developing patient-friendly genetic and genomic test reports: formats
to promote patient engagement and understanding. Genome Med.
2014;6:1-11.
8. Joseph G, Pasick RJ, Schillinger D, Luce J, Guerra C, Ka J, et al.
Information mismatch: cancer risk counseling with diverse underserved
patients. J Genet Couns. 2017;26:1090-104.
9. Williams JL, Rahm AK, Stuckey H, Green J, Feldman L, Zallen DT, et al.
Enhancing genomic laboratory reports: a qualitative analysis of provider
review. Am J Med Genet, Part A. 2016;170:1134-41.
10. Stuckey H, Williams JL, Fan AL, Rahm AK, Green J, Feldman L, et al.
Enhancing genomic laboratory reports from the patients' view: a
qualitative analysis. Am J Med Genet, Part A. 2015;167:2238-4223
11. Cutting E, Banchero M, Beitelshees AL, Cimino JJ, Del FiolG, Gurses AP,
et al. User-centered design of multi-gene sequencing panel reports for
clinicians. J Biomed Inform. 2016;63:1-10.

Transform
genetic data into
real-life results.

18 |

ClinicalOMICs.com

Learn
more

12. Johnson KJ, Schahl KA, Sinicrope PS, Mcallister TM, Mccormick JB,
Ruckman LE, et al. The " Genomic Novel " and " Priority Mapping Tool ":
using empathic design to develop innovative patient-centered decisionmaking tools for the genomic testing experience. J Genet Disor Genet
Rep. 2015;5:1-7.
13. Feldman-Stewart D, Kocovski N, McConnell BA, Brundage MD,
Mackillop WJ: Perception of quantitative information for treatment
decisions. Med Decis Making. 2000, 20: 228-238.
14. Schapira MM, Nattinger AB, McAuliffe TL: The influence of graphic
format on breast cancer risk communication. J Health Commun. 2006,
11: 569-582.



https://patientengagementhit.com/news/patient-portal-adoption-tops-90-patient-registrations-lag https://patientengagementhit.com/news/patient-portal-adoption-tops-90-patient-registrations-lag https://digitalinsights.qiagen.com/products-overview/clinical-insights-portfolio/qiagen-clinical-insight/qci-interpret/ https://www.clinicalomics.com/

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