Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience

Bean LJH, Scheuner MT, Murray MF et al (2021) DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG). Genet Med 23:979–988. https://doi.org/10.1038/s41436-020-01083-9

Article  CAS  PubMed  Google Scholar 

Beck AT, Sutton EJ, Chow CPY, et al (2021) “Who Doesn’t Like Receiving Good News?” Perspectives of Individuals Who Received Genomic Screening Results by Mail. J Personalized Med 11. https://doi.org/10.3390/jpm11050322

Berg JS, Khoury MJ, Evans JP (2011) Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genet Med 13:499–504. https://doi.org/10.1097/GIM.0b013e318220aaba

Article  PubMed  Google Scholar 

Buchanan AH, Lester Kirchner H, Schwartz MLB et al (2020) Clinical outcomes of a genomic screening program for actionable genetic conditions. Genet Med 22:1874–1882. https://doi.org/10.1038/s41436-020-0876-4

Article  PubMed  PubMed Central  Google Scholar 

Butterfield RM, Evans JP, Rini C et al (2019) Returning negative results to individuals in a genomic screening program: Lessons learned. Genet Med 21:409–416. https://doi.org/10.1038/s41436-018-0061-1.Returning

Article  PubMed  Google Scholar 

Chen B, Gagnon M, Shahangian S, et al (2009) Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep 58:1–37; quiz CE-1–4

De Simone LM, Arjunan A, Vogel Postula KJ et al (2021) Genetic counselors’ perspectives on population-based screening for BRCA-related hereditary breast and ovarian cancer and Lynch syndrome. J Genet Couns 30:158–169. https://doi.org/10.1002/jgc4.1305

Article  CAS  PubMed  Google Scholar 

de Wert G, Dondorp W, Clarke A et al (2021) Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet 29:365–377. https://doi.org/10.1038/s41431-020-00758-w

Article  PubMed  Google Scholar 

Dwyer AA, Au MG, Smith N et al (2021) Evaluating co-created patient-facing materials to increase understanding of genetic test results. J Genet Couns 30:598–605. https://doi.org/10.1002/jgc4.1348

Article  PubMed  Google Scholar 

eMERGE Consortium (2019) Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. Am J Hum Genet 105:588–605. https://doi.org/10.1016/j.ajhg.2019.07.018

Article  CAS  Google Scholar 

Gordon ES, Griffin G, Wawak L et al (2012) “It’s not like judgment day”: Public understanding of and reactions to personalized genomic risk information. J Genet Couns 21:423–432. https://doi.org/10.1007/s10897-011-9476-4

Article  PubMed  Google Scholar 

Green RC, Berg JS, Grody WW et al (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med Off J American College Med Genet 15:565–574. https://doi.org/10.1038/gim.2013.73

Article  CAS  Google Scholar 

Grzymski JJ, Elhanan G, Morales Rosado JA et al (2020) Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med 26:1235–1239. https://doi.org/10.1038/s41591-020-0982-5

Article  CAS  PubMed  Google Scholar 

Haga SB, Carrig MM, O’Daniel JM et al (2011) Genomic Risk Profiling: Attitudes and Use in Personal and Clinical Care of Primary Care Physicians Who Offer Risk Profiling. J GEN INTERN MED 26:834–840. https://doi.org/10.1007/s11606-011-1651-7

Article  PubMed  PubMed Central  Google Scholar 

Hoell C, Aufox S, Nashawaty N, et al (2020) Comprehension and personal value of negative non-diagnostic genetic panel testing. J Genet Couns 1–10. https://doi.org/10.1002/jgc4.1327

Hoskovec JM, Bennett RL, Carey ME et al (2018) Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study. J Genet Couns 27:16–20. https://doi.org/10.1007/s10897-017-0158-8

Article  PubMed  Google Scholar 

Kaphingst KA, McBride CM, Wade C et al (2010) Consumers’ use of web-based information and their decisions about multiplex genetic susceptibility testing. J Med Internet Res 12:1–11. https://doi.org/10.2196/jmir.1587

Article  Google Scholar 

Kraft SA, Schneider JL, Leo MC et al (2018) Patient actions and reactions after receiving negative results from expanded carrier screening. Clin Genet 93:962–971. https://doi.org/10.1111/cge.13206.Patient

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lynch JA, Sharp RR, Aufox SA, et al (2020) Understanding the return of genomic sequencing results process: Content review of participant summary letters in the eMERGE research network. J Personalized Med 10 https://doi.org/10.3390/jpm10020038

Milo Rasouly H, Wynn J, Marasa M et al (2019) Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. Genet Med 21:2371–2380. https://doi.org/10.1038/s41436-019-0497-y

Article  PubMed  Google Scholar 

Milo Rasouly H, Cuneo N, Marasa M, et al (2020) GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing. J Genet Couns 1–13. https://doi.org/10.1002/jgc4.1364

Murray MF, Evans JP, Khoury MJ (2020) DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps. JAMA - J Am Med Assoc 323:307–308. https://doi.org/10.1001/jama.2019.18640

Article  Google Scholar 

Murray MF, Giovanni MA, Doyle DL et al (2021) DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG). Genet Med 23:989–995. https://doi.org/10.1038/s41436-020-01082-w

Article  PubMed  Google Scholar 

Murray MF, Evans JP, Angrist M, et al (2018) A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults. NAM Perspectives 1–16. https://doi.org/10.31478/201812a

Rasouly HM, Balderes O, Marasa M et al (2023) The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists. Genet Med 25:100814

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rego S, Dagan-Rosenfeld O, Bivona SA et al (2019) Much ado about nothing : A qualitative study of the experiences of an average - risk population receiving results of exome sequencing. J Genet Couns 28:428–437. https://doi.org/10.1002/jgc4.1096

Article  PubMed  PubMed Central  Google Scholar 

R Core Team (2020) R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. URL https://www.R-project.org/

Stoll K, Kubendran S, Cohen SA (2018) The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine. Am J Med Genet C Semin Med Genet 178:24–37. https://doi.org/10.1002/ajmg.c.31602

Article  PubMed  Google Scholar 

Stuttgen K, Pacyna J, Beck A et al (2020a) Patient reactions to receiving negative genomic screening results by mail. Genet Med 22:1994–2002. https://doi.org/10.1038/s41436-020-0906-2

Article  PubMed  PubMed Central  Google Scholar 

Stuttgen K, Pacyna J, Kullo I, Sharp R (2020b) Neutral, negative, or negligible? Changes in patient perceptions of disease risk following receipt of a negative genomic screening result. J Personalized Med 10:. https://doi.org/10.3390/jpm10020024

Terrill B, McKnight L, Pearce A et al (2023) Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection. Eur J Hum Genet 31:257–261. https://doi.org/10.1038/s41431-022-01251-2

Article  PubMed  PubMed Central  Google Scholar 

Tung N, Battelli C, Allen B et al (2015) Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121:25–33. https://doi.org/10.1002/cncr.29010

Article  CAS  PubMed  Google Scholar 

Wiesner GL, Rahm AK, Appelbaum P, et al (2020) Returning results in the genomic era: Initial experiences of the emerge network. J Personalized Med 10:. https://doi.org/10.3390/jpm10020030

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