Contract grant sponsor: EuroGentest2 (EU Contract FP7-261469).
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
Version of Record online: 16 JUL 2013
© 2013 The Authors. *Human Mutation published by Wiley Periodicals, Inc.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Volume 34, Issue 10, pages 1322–1328, October 2013
How to Cite
Rigter, T., Henneman, L., Kristoffersson, U., Hall, A., Yntema, H. G., Borry, P., Tönnies, H., Waisfisz, Q., Elting, M. W., Dondorp, W. J. and Cornel, M. C. (2013), Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics. Hum. Mutat., 34: 1322–1328. doi: 10.1002/humu.22370
Communicated by Segolène Ayme
- Issue online: 18 SEP 2013
- Version of Record online: 16 JUL 2013
- Accepted manuscript online: 19 JUN 2013 06:19AM EST
- Manuscript Accepted: 13 JUN 2013
- Manuscript Received: 7 JAN 2013
- EuroGentest2. Grant Number: FP7-261469
- 2003. Genomic microrarrays in human genetic disease and cancer. Hum Mol Genet 12(suppl 2):R145–R152. , .
- 2008. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ 86:317–319. , , , .
- 2013. Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process. Eur J Hum Genet.[Epub ahead of print] doi 10.1038/ejhg.2012.297. , , .
- 2011. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 13:499–504. , , .
- 2010. Managing incidental findings on abdominal CT: white paper of the ACR incidental findings committee. J Am Coll Radiol 7:754–773. , , , , , , , , , , , , et al.
- 2012. Reply to Ross’ commentary: reproductive benefit through newborn screening: preferences, policy and ethics. Eur J Hum Genet 20:486–487. , .
- 2009. The expansion of newborn screening: is reproductive benefit an appropriate pursuit? Nat Rev Genet 10:666–667. , , , , , , .
- 2012. Health-care providers’ views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders. Eur J Hum Genet 20:498–504. , , , , , , , , , .
- 2013. Ethics watch: next-generation sequencing: does the next generation still have a right to an open future? Nat Rev Genet 14:306. , , .
- 2011. Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy. Hum Mutat 32:861–867. , , .
- Committee of Ministers and the Parliamentary Assembly of the Council of Europe. 2008. Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes. Available at: http://conventions.coe.int/Treaty/EN/Reports/Html/203.htm.
- 2012. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929. , , , , , , , , , , , , et al.
- 2012. Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent. Hum Mutat 33:916–922. , , , .
- 2012. Disease gene identification strategies for exome sequencing. Eur J Hum Genet 20:490–497. , , , .
- 2013. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Available at: www.acmg.net. , , , , , , , , , , , , et al.
- 2012. The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur J Hum Genet 20:911–916. , , , , , , , , , , , , et al.
- 2012. Next-generation sequencing demands next-generation phenotyping. Hum Mutat 33:884–886. , .
- 2012. Incidental findings in genetic research and clinical diagnostic tests: a systematic review. Am J Med Genet A 158A:3159–3167. , , , .
- 2012. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 91:97–108. , , , , , , , .
- 2012. Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet 82:408–415. , , , , , , , .
- 2013. Population studies: return of research results and incidental findings Policy Statement. Eur J Hum Genet 21:245–247. , , , .
- 2012. Taxonomizing, sizing, and overcoming the incidentalome. Genet Med 14:399–404. , , .
- 2011. Ethical considerations associated with clinical use of next-generation sequencing in children. J Pediatr 159:879–880. , , .
- 2013. Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing. Am J Med Genet A 161:542–549. , , , , .
- 2011. What can exome sequencing do for you? J Med Genet 48:580–589. , , , , .
- 2008. Research ethics and the challenge of whole-genome sequencing. Nat Rev Genet 9:152–156. , , .
- 2009. Genotype to phenotype-discovery and characterization of novel genomic disorders in a “genotype-first” era. Genet Med 11:836–842. .
- 2009. Clinical obligations and public health programmes: healthcare provider reasoning about managing the incidental results of newborn screening. J Med Ethics 35:626–634. , , , , , , , , , , .
- 2012. One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants. Eur J Hum Genet 20:837–843. , , , .
- 2002. Benign anatomical mistakes: incidentaloma. Am Surg 68:1026–1028. , .
- 2009. New challenges for informed consent through whole genome array testing. J Med Genet 46:495–496. , , , .
- 2010. Challenges in the clinical application of whole-genome sequencing. Lancet 375:1749–1751. , , , , , , , .
- 2011. Changing the game with whole exome sequencing. Clin Genet 80:101–103. .
- 2011. Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues? J Med Genet 48:535–539. , , , , .
- 2008. A proposal for a model of informed consent for the collection, storage and use of biological materials for research purposes. Patient Educ Couns 71:136–142. , .
- 2012. Newborn screening for sickle cell disease: whose reproductive benefit? Eur J Hum Genet 20:484–485. .
- 1999. [Updated 2010]. Li-Fraumeni syndrome. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle, WA: University of Washington1993. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1311/. , .
- 2009. Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing. J Med Genet 46:341–344. , , , , , , .
- 2012. Whole genome sequencing and the physician. Clin Genet 81:511–513. , , , .
- 2013. Whole genome sequencing and analysis and the challenges for health care professionals: recommendations of the European Society of Human Genetics. Eur J Hum Genet 21:580–584. , , , , , , , , , , .
- 2012. Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics. Hum Mutat 33:906–915. , , , , .
- 2008. Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics 36:219–248, 211. , , , , , , , , , , , , et al.
- 2011. PHG report: next steps in the sequence. The implications of whole genome sequencing for health in the UK. Available at: http://www.phgfoundation.org/reports/10364/. , , , , , , , .