Illustrative case studies in the return of exome and genome sequencing results

Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) consortium is to gain experience with this process to develop best practice recommendations for offering exome and genome testing and returning results. Genetic counselors in the CSER consortium have an integral role in the return of results from these genomic sequencing tests and have gained valuable insight. We present seven emerging themes related to return of exome and genome sequencing results accompanied by case descriptions illustrating important lessons learned, counseling challenges specific to these tests and considerations for future research and practice.

[1]  Nikhil Wagle,et al.  Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. , 2016, American journal of human genetics.

[2]  Yuan Xue,et al.  Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing , 2014, Genetics in Medicine.

[3]  M. Bamshad,et al.  Attitudes of non‐African American focus group participants toward return of results from exome and whole genome sequencing , 2014, American journal of medical genetics. Part A.

[4]  Victoria A. Miller,et al.  Stakeholders’ Opinions on the Implementation of Pediatric Whole Exome Sequencing: Implications for Informed Consent , 2014, Journal of Genetic Counseling.

[5]  W. Chung,et al.  Models of consent to return of incidental findings in genomic research. , 2014, The Hastings Center report.

[6]  Heidi L Rehm,et al.  Return of genomic results to research participants: the floor, the ceiling, and the choices in between. , 2014, American journal of human genetics.

[7]  Elizabeth W Karlson,et al.  Biobank participants' preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project. , 2014, Mayo Clinic proceedings.

[8]  J. Bridges,et al.  Public preferences for the return of research results in genetic research: A conjoint analysis , 2014, Genetics in Medicine.

[9]  Isaac S Kohane,et al.  The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine , 2014, Trials.

[10]  Julie C. Sapp,et al.  Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children , 2014, Clinical genetics.

[11]  Amie M. Blanco,et al.  Lynch Syndrome Patients’ Views of and Preferences for Return of Results Following Whole Exome Sequencing , 2014, Journal of Genetic Counseling.

[12]  Robert C. Green,et al.  Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board , 2014, Genetics in Medicine.

[13]  L. Biesecker,et al.  Preferences for results delivery from Exome Sequencing/Genome Sequencing , 2013, Genetics in Medicine.

[14]  Robert C. Green,et al.  Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium , 2013, Genetics in Medicine.

[15]  Paul S. Appelbaum,et al.  Informed consent for return of incidental findings in genomic research , 2013, Genetics in Medicine.

[16]  Emily H Turner,et al.  Actionable, pathogenic incidental findings in 1,000 participants' exomes. , 2013, American journal of human genetics.

[17]  W. Chung,et al.  Processes and factors involved in decisions regarding return of incidental genomic findings in research , 2013, Genetics in Medicine.

[18]  S. Haga,et al.  Promoting the participant–researcher partnership , 2013, Genetics in Medicine.

[19]  Susan M Wolf,et al.  Return of individual research results and incidental findings: facing the challenges of translational science. , 2013, Annual review of genomics and human genetics.

[20]  Q. Waisfisz,et al.  Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics , 2013, Human mutation.

[21]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[22]  M. Bamshad,et al.  Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing , 2013, American journal of medical genetics. Part A.

[23]  M. Bamshad,et al.  Self-guided management of exome and whole-genome sequencing results: changing the results return model , 2013, Genetics in Medicine.

[24]  Larry N. Singh,et al.  Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. , 2012, American journal of human genetics.