Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants

Papers of special note have been highlighted as: • of interest; •• of considerable interest

References

• 1 Johnston JJ, Lewis KL, Ng D et al. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am. J. Hum. Genet. 96(6), 913–925 (2015).Crossref, Medline, CAS, Google Scholar
• 2 Khoury MJ, Coates RJ, Evans JP. Evidence-based classification of recommendations on use of genomic tests in clinical practice: dealing with insufficient evidence. Genet. Med. 12(11), 680–683 (2010).Crossref, Medline, Google Scholar
• 3 De Wolf V, Brison N, Devriendt K, Peeters H. Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example. Am. J. Med. Genet. A 161A(11), 2846–2854 (2013).Crossref, Medline, Google Scholar
• 4 Thorogood A, Joly Y, Knoppers BM et al. An implementation framework for the feedback of individual research results and incidental findings in research. BMC Med. Ethics 15(1), 88 (2014).Crossref, Medline, Google Scholar
• 5 Meulenkamp TM, Gevers SK, Bovenberg J a et al. Communication of biobanks’ research results: what do (potential) participants want? Am. J. Med. Genet. A. 152A(10), 2482–2492 (2010).Crossref, Medline, Google Scholar
• 6 Middleton A, Morley KI, Bragin E et al. Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. Eur. J. Hum. Genet. 24(1), 21–29 (2015).Crossref, Medline, Google Scholar
• 7 Bloss CS, Schork NJ, Topol EJ. Effect of direct-to-consumer genomewide profiling to assess disease risk. N. Engl. J. Med. 364(6), 524–534 (2011).Crossref, Medline, CAS, Google Scholar
• 8 Kaufman DJ, Bollinger JM, Dvoskin RL, Scott JA. Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing. J. Genet. Couns. 21(3), 413–422 (2012).Crossref, Medline, Google Scholar
• 9 Kolor K, Duquette D, Zlot A et al. Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice. Genet. Med. 14(10), 860–867 (2012).Crossref, Medline, Google Scholar
• 10 Francke U, Dijamco C, Kiefer AK et al. Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing. Peer J. 1, e8 (2013).Crossref, Medline, Google Scholar
• 11 Hartz SM, Olfson E, Culverhouse R et al. Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change. Genet. Med. 17(5), 374–379 (2014).Crossref, Medline, Google Scholar
• 12 Vassy JL, Lautenbach DM, McLaughlin HM et al. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials 15, 85 (2014).Crossref, Medline, Google Scholar
• 13 Cassa CA, Savage SK, Taylor PL et al. Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res. 22(3), 421–428 (2012).Crossref, Medline, CAS, Google Scholar
• 14 Knoppers BM, Deschênes M, Zawati MH, Tassé AM. Population studies: return of research results and incidental findings Policy Statement. Eur. J. Hum. Genet. 21(3), 245–247 (2013). •• Policy statement on return of research results.Crossref, Medline, Google Scholar
• 15 Kaye J, Hurles M, Griffin H et al. Managing clinically significant findings in research: the UK10K example. Eur. J. Hum. Genet. 22(9), 1100–1104 (2014).Crossref, Medline, Google Scholar
• 16 Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet. Med. 13(7), 680–685 (2011).Crossref, Medline, Google Scholar
• 17 Green RC, Berg JS, Grody WW et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15(7), 565–574 (2013). •• Recommendations for reporting incidental genomic findings.Crossref, Medline, CAS, Google Scholar
• 18 Beskow LM, Burke W. Offering individual genetic research results: context matters. Science 2(38), 1–10 (2010).Google Scholar
• 19 Leitsalu L, Haller T, Esko T et al. Cohort profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. Int. J. Epidemiol. 44(4), 1137–1147 (2015).Crossref, Medline, Google Scholar
• 20 Riigikogu. Human Genes Research Act. www.riigiteataja.ee/en/eli/531102013003/consolide.Google Scholar
• 21 Männik K, Mägi R, Macé A et al. Copy number variations and cognitive phenotypes in unselected populations. JAMA 313(20), 2044–2054 (2015). • Overview of the 16p11.2 copy number variant finding and the associated phenotype among population biobank participants.Crossref, Medline, Google Scholar
• 22 Weiss LA, Shen Y, Korn JM et al. Association between microdeletion and microduplication at 16p11.2 and autism. JAMA 358(7), 667–675 (2008).CAS, Google Scholar
• 23 Shinawi M, Liu P, Kang SL et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J. Med. Genet. 47(5), 332–341 (2010).Crossref, Medline, CAS, Google Scholar
• 24 Zufferey F, Sherr EH, Beckmann ND et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J. Med. Genet. 49(10), 660–668 (2012).Crossref, Medline, CAS, Google Scholar
• 25 Maillard AM, Ruef A, Pizzagalli F et al. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Mol. Psychiatry 20(1), 140–147 (2014).Crossref, Medline, Google Scholar
• 26 McCarthy SSES, Makarov V, Kirov G et al. Microduplications of 16p11. 2 are associated with schizophrenia. Nat. Genet. 41(11), 1223–1227 (2009).Crossref, Medline, CAS, Google Scholar
• 27 Reinthaler EM, Lal D, Lebon S et al. 16p11.2 600 kb duplications confer risk for typical and atypical rolandic epilepsy. Hum. Mol. Genet. 23(22), 6069–6080 (2014).Crossref, Medline, CAS, Google Scholar
• 28 Jacquemont S, Reymond A, Zufferey F et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478(7367), 97–102 (2011).Crossref, Medline, CAS, Google Scholar
• 29 Walters RG, Jacquemont S, Valsesia A et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 463(7281), 671–675 (2010).Crossref, Medline, CAS, Google Scholar
• 30 D'Angelo D, Lebon S, Chen Q et al. Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. JAMA Psychiatry 73(1), 20–30 (2016).Crossref, Medline, Google Scholar
• 31 Hanson E, Bernier R, Porche K et al. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol. Psychiatry 77(9), 785–793 (2014).Crossref, Medline, Google Scholar
• 32 Howald C, Merla G, Digilio MC et al. Two high throughput technologies to detect segmental aneuploidies identify new Williams–Beuren syndrome patients with atypical deletions. J. Med. Genet. 43(3), 266–273 (2006).Crossref, Medline, CAS, Google Scholar
• 33 Payne K, Nicholls SG, McAllister M et al. Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients’ views. Health Policy 84(1), 112–122 (2007).Crossref, Medline, Google Scholar
• 34 McAllister M, Wood AM, Dunn G, Shiloh S, Todd C. The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services. Clin. Genet. 79(5), 413–424 (2011).Crossref, Medline, CAS, Google Scholar
• 35 Foster MW, Mulvihill JJ, Sharp RR. Evaluating the utility of personal genomic information. Genet. Med. 11(8), 570–574 (2009).Crossref, Medline, Google Scholar
• 36 Wechsler D. Wechsler Adult Intelligence Scale – Third Edition (WAIS-III). Estonian adaptations copyright 2011, NCS Pearson, Inc., USA (1997). www.pearsonclinical.com/psychology/products/100000243/wechsler-adult-intelligence-scale--third-edition-wais-iii.html.Google Scholar
• 37 ICD-10 Version:2015. http://apps.who.int/classifications/icd10/browse/2015/en.Google Scholar
• 38 American Psychiatric Association. Diagnostic and statistical manual of mental Disorders. 4. DSM-IV-TR (4th ed., text rev.). Washington, DC, USA (2000).Google Scholar
• 39 Namey EE, Beskow LM. Epilepsy patient-participants and genetic research results as “answers”. J. Empir. Res. Hum. Res. Ethics 6(4), 21–29 (2011).Crossref, Medline, Google Scholar
• 40 Keogh LA, Fisher D, Sheinfeld Gorin S et al. How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry. J. Commun. Genet. 5(2), 99–108 (2014).Crossref, Medline, Google Scholar
• 41 Knoppers BM, Zawati MH, Sénécal K. Return of genetic testing results in the era of whole-genome sequencing. Nat. Rev. Genet. 16(9), 553–559 (2015).Crossref, Medline, CAS, Google Scholar
• 42 Olson JE, Ryu E, Johnson KJ et al. The Mayo Clinic Biobank: a building block for individualized medicine. Mayo Clin. Proc. 88(9), 952–962 (2013).Crossref, Medline, Google Scholar
• 43 Crook A, Plunkett L, Forrest LE et al. Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS). Eur. J. Hum. Genet. 23(2), 152–158 (2014).Crossref, Medline, Google Scholar
• 44 Kasparian N a, Wakefield CE, Meiser B. Assessment of psychosocial outcomes in genetic counseling research: an overview of available measurement scales. J. Genet. Couns. 16(6), 693–712 (2007).Crossref, Medline, Google Scholar
• 45 Gray SW, Martins Y, Feuerman LZ et al. Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genet. Med. 16(10), 727–735 (2014).Crossref, Medline, Google Scholar