The reproductive decision-making of young people (aged 15–39 years) with Li-Fraumeni syndrome (LFS), an early onset inherited cancer syndrome, has not been studied in depth. Using interpretive description methodology, we conducted semi-structured interviews with 30 young Australians (mean age 25.5 years) diagnosed with LFS or at 50% genetic risk. With reflexive thematic analysis, we show how young people’s reproductive decision-making and ideals for family formation were shaped by a sense of genetic responsibility to ensure the health of future biological kin. Reproductive technology provided choices for family formation in the context of LFS and also complicated reproductive decisions, as these choices were difficult to understand, make, or carry out. We uphold that reproductive decision-making when living with LFS is a profoundly moral practice that may pose significant challenges for young people navigating their formative years. We offer genetic counseling practice recommendations to support individuals with LFS when making reproductive decisions.
AchatzM. I.OlivierM.Le CalvezF.Martel-PlancheG.LopesA.RossiB. M.Ashton-ProllaP.GiuglianiR.PalmeroE. I.VargasF. R.Da RochaJ. C.VettoreA. L.HainautP. (2007). The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Letters, 245(1–2), 96–102. https://doi.org/10.1016/j.canlet.2005.12.039
2.
ArnettJ. J. (2000). Emerging adulthood: A theory of development from the late teens through the twenties. American Psychologist, 55(5), 469–480. https://doi.org/10.1037/0003-066X.55.5.469
3.
BrandenburgK. (2007). A new sociological imperative: Towards engaging with preimplantation genetic diagnosis. Health Sociology Review, 16(1), 79–88. https://doi.org/10.5172/hesr.2007.16.1.79
4.
BraunV.ClarkeV.HayfieldN.TerryG. (2019). Thematic analysis. In LiamputtongP. (Ed.), Handbook of Research Methods in Health Social Sciences (pp. 843–860). Springer Singapore.
5.
BryantA.CharmazK. (2007). The SAGE handbook of grounded theory. SAGE Publications Inc.
6.
BustamanteC. D.De La VegaF. M.BurchardE. G. (2011). Genomics for the world. Nature, 475(7355), 163–165. https://doi.org/10.1038/475163a
7.
ChanJ. L.JohnsonL. N. C.SammelM. D.DiGiovanniL.VoongC.DomchekS. M.GraciaC. R. (2017). Reproductive decision-making in women with BRCA1/2 mutations. Journal of Genetic Counseling, 26(3), 594–603. https://doi.org/10.1007/s10897-016-0035-x
8.
d’Agincourt-CanningL. (2001). Experiences of genetic risk: Disclosure and the gendering of responsibility. Bioethics, 15(3), 231–247. https://doi.org/10.1111/1467-8519.00234
9.
DecruyenaereM.Evers-KieboomsG.BoogaertsA.PhilippeK.DemyttenaereK.DomR.VandenbergheW.FrynsJ. P. (2007). The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. European Journal of Human Genetics, 15(4), 453–462. https://doi.org/10.1038/sj.ejhg.5201774
10.
Derks-SmeetsI. A. P.Gietel-HabetsJ. J. G.TibbenA.Tjan-HeijnenV. C. G.Meijer-HoogeveenM.GeraedtsJ. P. M.van GoldeR.Gomez-GarciaE.van den BogaartE.van HooijdonkM.de Die-SmuldersC. E.van OschL. A. D. M. (2014). Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: A challenge for couples with hereditary breast and ovarian cancer. Human Reproduction, 29(5), 1103–1112. https://doi.org/10.1093/humrep/deu034
11.
DommeringC. J.HennemanL.van der HoutA. H.JonkerM. A.TopsC. M. J.van den OuwelandA. M. W.van der LuijtR. B.MensenkampA. R.HogervorstF. B.RedekerE. J.de Die-SmuldersC. E.MollA. C.Meijers-HeijboerH. (2017). Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands. Familial Cancer, 16(2), 271–277. https://doi.org/10.1007/s10689-016-9943-z
12.
DonnellyL. S.WatsonM.MoynihanC.BancroftE.EvansD. G. R.EelesR.LaveryS.OrmondroydE. (2013). Reproductive decision-making in young female carriers of a BRCA mutation. Human Reproduction, 28(4), 1006–1012. https://doi.org/10.1093/humrep/des441
13.
DowningC. (2005). Negotiating responsibility: Case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease. Journal of Genetic Counseling, 14(3), 219–234. https://doi.org/10.1007/s10897-005-0619-3
14.
EtchegaryH.FowlerK. (2008). ‘They had the right to know.’ Genetic risk and perceptions of responsibility. Psychology & Health, 23(6), 707–727. https://doi.org/10.1080/14768320701235249
15.
FarrellR. M.MercerM.AgatisaP. K.ColeridgeM. B. (2019). Balancing needs and autonomy: The involvement of pregnant women’s partners in decisions About cfDNA. Qualitative Health Research, 29(2), 211–221. https://doi.org/10.1177/1049732318796833
16.
Forbes ShepherdR. (2020). Coming of age with Li-fraumeni syndrome: Perspectives of young people and health professionals. (Doctor of philosophy). The University of Melbourne.
17.
Forbes ShepherdR., etal. (2021). Benefits and burdens of risk management for young people with inherited cancer: a focus on Li-Fraumeni syndrome. Australian Journal of General Practice, 50(8), 538-544. DOI:10.31128/AJGP-04-21-5954.
18.
Forbes ShepherdR.LewisA.KeoghL. A.Werner-LinA.DelatyckiM. B.ForrestL. E. (2018). A systematic review of how young people live with inherited disease: What can we learn for Li-Fraumeni syndrome?Journal of Adolescent and Young Adult Oncology, 7(5), 525–545. https://doi.org/10.1089/jayao.2018.0028
19.
Forbes ShepherdR.Werner-LinA.KeoghL. A.DelatyckiM. B.ForrestL. E. (2020). “I need to know if I’m going to die young”: Adolescent and young adult experiences of genetic testing for Li–Fraumeni syndrome. Journal of Psychosocial Oncology, 39(1), 54–73. https://doi.org/10.1080/07347332.2020.1768199
20.
FranklinS.RobertsC. (2006). Born and made: An ethnography of preimplantation genetic diagnosis. Princeton University Press.
21.
Genoff GarzonM. C.RubinL. R.LobelM.StellingJ.PastoreL. M. (2018). Review of patient decision-making factors and attitudes regarding preimplantation genetic diagnosis. Clinical Genetics, 94(1), 22–42. https://doi.org/10.1111/cge.13174
22.
HallidayL. E.BoughtonM. A.KerridgeI. (2015). Liminal reproductive experiences after therapies for hematological malignancy. Qualitative Health Research, 25(3), 408–416. https://doi.org/10.1177/1049732314550006
23.
HallowellN. (1999). Doing the right thing: Genetic risk and responsibility. Sociology of Health & Illness, 21(5), 597–621. https://doi.org/10.1111/1467-9566.00175
24.
HallowellN.Arden-JonesA.EelesR.FosterC.LucassenA.MoynihanC.WatsonM. (2006). Guilt, blame and responsibility: Men’s understanding of their role in the transmission of BRCA1/2 mutations within their family. Sociology of Health & Illness, 28(7), 969–988. https://doi.org/10.1111/j.1467-9566.2006.00515.x
25.
HodgsonJ.PittP.MetcalfeS.HallidayJ.MenezesM.FisherJ.HickertonC.PetersenK.McClarenB. (2016). Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study. The Australian and New Zealand Journal of Obstetrics and Gynaecology, 56(6), 605–613. https://doi.org/10.1111/ajo.12501
26.
IngramD.HutchinsonS. A. (2000). Double binds and the reproductive and mothering experiences of HIV-positive women. Qualitative Health Research, 10(1), 117–132. https://doi.org/10.1177/104973200129118282
27.
KaratasJ. C.Barlow-StewartK.MeiserB.McMahonC.StrongK. A.HillW.KellyP. J. (2010). A prospective study assessing anxiety, depression and maternal-fetal attachment in women using PGD. Human Reproduction, 26(1), 148–156. https://doi.org/10.1093/humrep/deq281
28.
KaratasJ. C.Barlow-StewartK.StrongK. A.MeiserB.McMahonC.RobertsC. (2010). Women’s experience of pre-implantation genetic diagnosis: A qualitative study. Prenatal Diagnosis, 30(8), 771–777. https://doi.org/10.1002/pd.2542
29.
KenenR. (1994). The Human Genome Project: Creator of the potentially sick, potentially vulnerable and potentially stigmatized? In RobinsonI. (Ed.), Life and Death under High Technology Medicine (pp. 49–64). Manchester University Press.
30.
tKratzC. P.AchatzM. I.BrugièresL.FrebourgT.GarberJ. E.GreerM.-L. C.HansfordJ. R.JanewayK. A.KohlmannW. K.McGeeR.MullighanC. G.OnelK.PajtlerK. W.PfisterS. M.SavageS. A.SchiffmanJ. D.SchneiderK. A.StrongL. C.EvansD.MalkinD. (2017). Cancer screening recommendations for individuals with Li-fraumeni syndrome. Clinical Cancer Research, 23(11), e38–e45. https://doi.org/10.1158/1078-0432.ccr-17-0408
31.
LammensC. R.BleikerE.AaronsonN.VriendsA.AusemsM.JansweijerM.WagnerA.SijmonsR.van den OuwelandA.van der LuijtR.SpruijtL.Gómez GarcíaE.RuijsM.VerhoefS. (2009). Attitude towards pre-implantation genetic diagnosis for hereditary cancer. Familial Cancer, 8(4), 457–464. https://doi.org/10.1007/s10689-009-9265-5
32.
LemkeT.RüppelJ. (2019). Social dimensions of preimplantation genetic diagnosis: A literature review. New Genetics and Society, 38(1), 80–112. https://doi.org/10.1080/14636778.2018.1549983
33.
LuptonD. (1993). Risk as moral danger: The social and political functions of risk discourse in public health. International Journal of Health Services, 23(3), 425–435. https://doi.org/10.2190/16AY-E2GC-DFLD-51X2
34.
MacQueenK. M.McLellanE.KayK.MilsteinB. (1998). Codebook development for team-based qualitative analysis. Field Methods, 10(2), 31–36. https://doi.org/10.1177/1525822X980100020301
35.
MaiP. L.BestA. F.PetersJ. A.DeCastroR. M.KhinchaP. P.LoudJ. T.BremerR. C.RosenbergP. S.SavageS. A. (2016). Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer, 122(23), 3673–3681. https://doi.org/10.1002/cncr.30248
36.
MalterudK.SiersmaV. D.GuassoraA. D. (2016). Sample size in qualitative interview studies: Guided by information power. Qualitative Health Research, 26(13), 1753–1760. https://doi.org/10.1177/1049732315617444
37.
MaxwellJ. A. (2012). What is Realism, and why should qualitative researchers care? In A Realist Approach for Qualitative Research (pp. 3–13). SAGE Publications, Inc.
38.
McCoydJ. L. (2008). “I’m not a saint”: Burden assessment as an unrecognized factor in prenatal decision making. Qualitative Health Research, 18(11), 1489–1500. https://doi.org/10.1177/1049732308325642
39.
McCoydJ. L. (2010). Authoritative knowledge, the technological imperative and women’s responses to prenatal diagnostic technologies. Culture, Medicine and Psychiatry, 34(4), 590–614. https://doi.org/10.1007/s11013-010-9189-4
40.
OrmondroydE.DonnellyL.MoynihanC.SavonaC.BancroftE.EvansD. G.EelesR.LaveryS.WatsonM. (2012). Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: A qualitative analysis. European Journal of Human Genetics, 20(1), 4–10. https://doi.org/10.1038/ejhg.2011.146
PetersenT. S. (2005). Just diagnosis? Preimplantation genetic diagnosis and injustices to disabled people. Journal of Medical Ethics, 31(4), 231–234. https://doi.org/10.1136/jme.2003.006429
43.
PolzerJ.MercerS. L.GoelV. (2002). Blood is thicker than water: Genetic testing as citizenship through familial obligation and the management of risk. Critical Public Health, 12(2), 153–168. https://doi.org/10.1080/09581590210127389
44.
PossickC.Kestler-PelegM. (2019). BRCA and motherhood: A matter of time and timing. Qualitative Health Research, 30(6), 825–835https://doi.org/10.1177/1049732319885113
45.
QuinnG. P.PalT.MurphyD.VadaparampilS. T.KumarA. (2012). High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: A systematic review and meta-analysis. Genetics in Medicine, 14(2), 191–200. https://doi.org/10.1038/gim.0b013e31822ddc7e
46.
RappR. (2000). Testing women, testing the fetus: The social impact of amniocentesis in America. Routledge.
47.
RichT. A.LiuM.EtzelC. J.BannonS. A.MorkM. E.ReadyK.SaraiyaD. S.GrubbsE. G.PerrierN. D.LuK. H.ArunB. K.WoodardT. L.SchoverL. R.LittonJ. K. (2014). Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes. Familial Cancer, 13(2), 291–299. https://doi.org/10.1007/s10689-013-9685-0
48.
RobertsC.FranklinS. (2004). Experiencing new forms of genetic choice: Findings from an ethnographic study of preimplantation genetic diagnosis. Human Fertility, 7(4), 285–293. https://doi.org/10.1080/14647270400016449
49.
SmithJ. A.StephensonM.JacobsC.QuarrellO. (2013). Doing the right thing for one’s children: Deciding whether to take the genetic test for Huntington’s disease as a moral dilemma. Clinical Genetics, 83(5), 417–421. https://doi.org/10.1111/cge.12124
Unnithan-KumarM. (2004). Introduction. In Unnithan-KumarM. (Ed.), Reproductive agency, medicine and the state (1 ed., pp. 1–24). Berghahn Books.
52.
VavolizzaR. D.KaliaI.Erskine AaronK.SilversteinL. B.BarlevyD.WassermanD.WalshC.MarionR. W.DolanS. M. (2015). Disclosing genetic information to family members about inherited cardiac arrhythmias: An obligation or a choice?Journal of Genetic Counseling, 24(4), 608–615. https://doi.org/10.1007/s10897-014-9783-7
53.
Werner-LinA.RubinL. R.DoyleM.SternR.SavinK.HurleyK.SagiM. (2012). “My funky genetics”: BRCA1/2 mutation carriers’ understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies. Families, Systems and Health, 30(2), 166–180. https://doi.org/10.1037/a0028434
54.
YoungJ. L.PantaleaoA.ZaspelL.BayerJ.PetersJ. A.KhinchaP. P.BremerR. C.LoudJ. T.GreeneM. H.AchatzM. I.SavageS. A.Werner-LinA. (2019). Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence. Journal of Psychosocial Oncology, 37(2), 178–193. https://doi.org/10.1080/07347332.2018.1543376
55.
ZeilerK. (2004). Reproductive autonomous choice — A cherished illusion? Reproductive autonomy examined in the context of preimplantation genetic diagnosis. Medicine, Health Care and Philosophy, 7(2), 175–183. https://doi.org/10.1023/B:MHEP.0000034323.68025.d5
Supplementary Material
Please find the following supplemental material available below.
For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.
For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.
