Article | Published:

Age and perceived risks and benefits of preventive genomic screening




As genome sequencing moves from research to clinical practice, sequencing technologies focused on “medically actionable” targets are being promoted for preventive screening despite the dearth of systematic evidence of risks and benefits and of criteria for selection of screening subjects. This study investigates researchers’ and research participants’ perceptions of these issues within the context of a preventive genomic screening study, GeneScreen.


We recorded researcher deliberations regarding age eligibility criteria and the risks and benefits of screening, and conducted interviews with 50 GeneScreen participants about their motivations for joining and their perceptions of risks and benefits.


Researchers made assumptions about who would want and benefit from screening based on age. After discussion, researchers opted not to have an upper age limit for enrollment. Participants of all ages perceived similar benefits, including prevention, treatment, and cascade testing, and similar risks, such as insurance discrimination and worry.


While clinical benefits of preventive genomic screening for older adults are debatable, our respondents perceived a range of benefits of screening in both clinical and research settings. Researchers and clinicians should carefully consider decisions about whether to exclude older adults and whether to provide information about benefits and risks across age groups.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1

    Committee on Bioethics, Committee on Genetics, ACMG, Genomics Social, Ethical and Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Pediatrics 2013;131:620–622.

  2. 2

    American Academy of Pediatrics, ACMGRoss LF American Academy of Pediatrics, ACMGSaal HM American Academy of Pediatrics, ACMGDavid KL American Academy of Pediatrics, ACMGAnderson RR American Academy of Pediatrics, ACMG. Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med 2013;15:234–245.

  3. 3

    Burke W, Antommaria AHM, Bennett R et al. Recommendations for returning genomic incidental findings? We need to talk!. Genet Med 2013;15:854–9.

  4. 4

    Clayton EW, McCullough LB, Biesecker LG, Joffe S, Ross LF, Wolf SM. Addressing the ethical challenges in genetic testing and sequencing of children. Am J Bioeth 2014;14:3–9.

  5. 5

    Morrissey C, Walker RL The ethics of general population preventive genomic sequencing: rights and social justice. J Med Philos, in press.

  6. 6

    Bayer A, Tadd W. Unjustified exclusion of elderly people from studies submitted to research ethics committee for approval: descriptive study. BMJ 2000;321:992–993.

  7. 7

    Cherubini A, Chrome PThe exclusion of older subjects from clinical trials: the PREDICT study. In: Cherubini A, Bernabei R, Ferrucci L, Marchionni N, Studenski S, Vellas B(eds). Clinical Trials in Older Adults. Wiley, Sons: Chichester, UK, 2015: 3–22.

  8. 8

    Fitzsimmons PR, Blayney S, Mina-Corkill S, Scott GO. Older participants are frequently excluded from Parkinson’s disease research. Parkinsonism Relat Disord 2012;18:585–589.

  9. 9

    Cherubini A, Oristrell J, Pla X et al. The persistent exclusion of older patients from ongoing clinical trials regarding heart failure. Arch Intern Med 2011;171:550–556.

  10. 10

    Cruz-Jentoft AJ, Carpena-Ruiz M, Montero-Errasquín B, Sánchez-Castellano C, Sánchez-García E. Exclusion of older adults from ongoing clinical trials about type 2 diabetes mellitus. J Am Geriatr Soc 2013;61:734–738.

  11. 11

    Kolb G, Rehmann P, Karbe-Voigt N, Wostmann B. Are old patients not fit for clinical trials, or do clinical trials not fit to old patients? A survey in 35 pharmaceutical companies. Eur Geriatr Med 2015;6:354–357.

  12. 12

    Cruz-Jentoft AJ, Gutiérrez B. Upper age limits in studies submitted to a research ethics committee. Aging Clin Exper Res 2010;22:175–178.

  13. 13

    McMurdo MET, Roberts H, Parker S et al. Improving recruitment of older people to research through good practice. Age Ageing 2011;40:659–65.

  14. 14

    Witham MD, McMurdo MET. How to get older people included in clinical studies. Drugs Aging 2007;24:187–196.

  15. 15

    Evans JP, Berg JS, Olshan AF, Magnuson T, Rimer BK. We screen newborns, don’t we?: realizing the promise of public health genomics. Genet Med 2013;15:332–334.

  16. 16

    Khoury MJ, McCabe LL, McCabe ERB. Population screening in the age of genomic medicine. N Engl J Med 2003;348:50–58.

  17. 17

    King MC, Levy-Lahad E, Lahad A. Population-based screening for BRCA1 and BRCA2. JAMA 2014;312:1091–1092.

  18. 18

    Lázaro-Muñoz G, Conley JM, Davis AM, Van Riper M, Walker RL, Juengst ET. Looking for trouble: Preventive genomic sequencing in the general population and the role of patient choice. Am J Bioeth 2015;15:3–14.

  19. 19

    Plon SE. BRCA1/2 population screening: embracing the benefits. Curr Oncol 2015;22:e230–e231.

  20. 20

    Prince AER, Berg JS, Evans JP, Jonas DE, Henderson GE. Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews. Genet Med 2015;17:441–443.

  21. 21

    Foulkes WD, Knoppers BM, Turnbull C. Population genetic testing for cancer susceptibility: founder mutations to genomes. Nat Rev Clin Oncol 2016;13:41–54.

  22. 22

    Karow J Geisinger MyCode Results, Reengagement of Patients May Clarify Variant Pathogenicity, Penetrance. Genome Web, 2016. Accessed 11 September 2017.

  23. 23

    GeneScreen investigatorsAdams MC GeneScreen investigatorsEvans JP GeneScreen investigatorsHenderson GE GeneScreen investigatorsBerg JS GeneScreen investigators. The promise and peril of genomic screening in the general population. Genet Med 2016;18:593–599.

  24. 24

    Lázaro-Muñoz G, Conley JM, Davis AM, Prince AE, Cadigan RJ. Which results to return: subjective judgments in selecting medically actionable genes. Genet Test Mol Biomarkers 2017;21:184–194.

  25. 25

    Cadigan RJ, Butterfield R, Rini C et al, Online education and e-consent for GeneScreen, a preventive genomic screening study. Public Health Genomics, in press.

  26. 26

    Hsieh HF, Shannon SE. Three approaches to qualitative content analysis. Qual Health Res 2005;15:1277–1288.

  27. 27

    Burke W, Evans BJ, Jarvik GP. Return of results: ethical and legal distinctions between research and clinical care. Am J Med Genet C Semin Med Genet 2014;166:105–111.

  28. 28

    Prince AER, Conley JM, Davis AM, Lázaro-Muñoz G, Cadigan RJ. Automatic placement of genomic research results in medical records: do researchers have a duty? Should participants have a choice? J Law Med Ethics 2015;43:827–42.

  29. 29

    Mählmann L, Röcke C, Brand A, Hafen E, Vayena E. Attitudes towards personal genomics among older Swiss adults: an exploratory study. Appl Transl Genom 2016;8:9–15.

  30. 30

    Lewis KL, Han PK, Hooker GW, Klein WM, Biesecker LG, Biesecker BB. Characterizing participants in the ClinSeq genome sequencing cohort as early adopters of a new health technology. PloS ONE 2015;10:e0132690.

  31. 31

    Salzman B, Beldowski K, De La Paz A. Cancer screening in older patients. Am Fam Physician 2016;93.8:659–667.

  32. 32

    Bibbins-Domingo K, Grossman DC, Curry SJ et al. Screening for colorectal cancer: US Preventive Services Task Force recommendation statement. JAMA 2016;315:2564–2575.

  33. 33

    Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? Genet Med 2013;15:517–527.

Download references


Support for this article was funded by the National Institutes of Health grant 2P50HG004488 (G.E.H.) and K99HG008819 (A.E.R.P.). The authors thank Eric T. Juengst, Karen Meagher, Myra Roche, and Kate Saylor for helpful comments on drafts of this paper. Many thanks also to those who participated in the GeneScreen study.

Author information

Conflict of Interest

The authors declare no conflict of interest.

Correspondence to Margaret Waltz PhD.

Rights and permissions

To obtain permission to re-use content from this article visit RightsLink.

About this article