Searching for secondary findings: considering actionability and preserving the right not to know

Article metrics

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1.

    Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN.NISC Comparative Sequencing Program et al. Evaluation of recipients of positive and negative secondary findings evaluations in a hybrid CLIA-research sequencing pilot. Am J Hum Genet. 2018;103:358–66.

  2. 2.

    Van ElCG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV.ESHG Public and Professional Policy Committee et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21(Suppl 1):S1–5.

  3. 3.

    Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I.EuroGentest; European Society of Human Genetics et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet. 2016;24:2–5.

  4. 4.

    Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;2:249–55.

  5. 5.

    Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, et al. “Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.”. Nat Biotechnol. 2016;34:531–8.

  6. 6.

    Zawati MH, Parry D, Thorogood A, Nguyen MT, Boycott KM, Rosenblatt D, et al. Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada? J Med Genet. 2014;51:68–70.

  7. 7.

    Fullerton SM, Wolf WA, Brothers KB, Clayton EW, Crawford DC, Denny JC, et al. Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genet Med. 2012;14:424–31.

  8. 8.

    Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, et al. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. J Med Genet. 2015;52:431–7.

  9. 9.

    Richer J, Laberge AM. Secondary findings from next-generation sequencing: what does actionable in childhood really mean? Genet Med. 2018.

  10. 10.

    Berg JS, Foreman AK, O’Daniel JM, Booker JK, Boshe L, Carey T, et al. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med. 2016;18:467–75.

  11. 11.

    Godino L, Turchetti D, Jackson L, Hennessy C, Skirton H. “Impact of presymptomatic genetic testing on young adults: a systematic review.”. Eur J Hum Genet. 2016;24:496–503.

  12. 12.

    Pasquier L, Isidor B, Rial-Sebbag E, Odent S, Minguet G, Moutel G. "Population genetic screening: current issues in a European country." Eur J Hum Genet. 2019.

  13. 13.

    Viberg J, Segerdahl P, Langenskiöld S, Hansson MG. Freedom of Choice About Incidental Findings Can Frustrate Participants’ True Preferences. Bioethics . 2016;30:203–9.

  14. 14.

    Bennette CS, Trinidad SB, Fullerton SM, Patrick D, Amendola L, Burke W, et al. Return of incidental findings in genomic medicine: measuring what patients value–development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Genet Med. 2013;15:873–81.

  15. 15.

    Décret N° 2013-527 du 20 juin 2013 relatif aux “conditions de mise en œuvre de l’information de la parentèle dans le cadre d’un examen des caractéristiques génétiques à finalité médicale”. French public health code.

  16. 16.

    Timmermans S, Buchbinder M. Patients-in-waiting: Living between sickness and health in the genomics era. J Health Soc Behav. 2010;51:408–23.

Download references

Author information

Correspondence to Bertrand Isidor or Marie Vincent.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark