| Literature DB >> 30238178 |
J J Bakhuizen1, M E Velthuizen2, S Stehouwer2, E M Bleiker3,4, M G Ausems2.
Abstract
Germline TP53 mutations are associated with an increased risk of early-onset breast cancer. Traditionally, it was not standard practice to offer TP53 genetic testing due to the low mutation detection rate and limited options regarding preventive screening. Recent guidelines recommend that all women diagnosed with breast cancer before the age of 31, irrespective of family history, should be offered TP53 genetic testing. This study aims to gain more knowledge on the attitudes and experiences among genetics professionals regarding the timing and content of genetic counselling of young breast cancer patients for Li-Fraumeni syndrome (LFS). We conducted a nationwide online survey among genetics professionals who provide cancer genetic counselling in the Netherlands. Fifty-seven professionals completed the questionnaire (response rate overall 54%, clinical geneticists 70%). Most respondents reported that they discuss the option of TP53 genetic testing-simultaneously with BRCA 1/2-during the initial counselling visit, especially in case of referral for treatment-focused genetic counselling. There was a general consensus about ten information items that should be discussed during counselling. Sixty-one percent of genetics professionals did not encounter difficulties in providing genetic counselling for LFS, but a substantial minority (29%) did. This study offers valuable insight, which will be useful for clinical practice. Studies which address young breast cancer patients' attitudes and preferences regarding the timing and content of counselling are warranted to further determine the most appropriate genetic counselling strategy for these women.Entities:
Keywords: Attitudes; Breast cancer; Genetic testing; Genetics professional; Li–Fraumeni syndrome
Mesh:
Substances:
Year: 2019 PMID: 30238178 PMCID: PMC6449299 DOI: 10.1007/s10689-018-0103-5
Source DB: PubMed Journal: Fam Cancer ISSN: 1389-9600 Impact factor: 2.375
Characteristics of respondents (n = 57)
| Variables and response categories | n (%) |
|---|---|
| Profession | |
| Clinical geneticist | 35 (61%) |
| Genetic counsellor | 13 (23%) |
| Clinical geneticist-in-training | 9 (16%) |
| Experience (years) in oncogenetic counselling | |
| < 1 | 4 (7%) |
| 1–2 | 8 (14%) |
| 2–5 | 7 (12%) |
| 5–10 | 8 (14%) |
| > 10 | 30 (53%) |
| Sex | |
| Male | 9 (16%) |
| Female | 48 (84%) |
Genetics professionals’ experiences with the genetic counselling of women diagnosed with breast cancer under the age of 30 in general (I) and for LFS (II)
| Number of patients | ||||||
|---|---|---|---|---|---|---|
| 0 | 1–5 | 5–10 | 10–15 | 15–20 | > 20 | |
| I. Professionals who have counselled young breast cancer patients (n) | 2 | 15 | 12 | 11 | 7 | 10 |
| II. Professionals who have discussed LFS with young breast cancer patients (n) | – | 20 | 11 | 10 | 5 | 8 |
LFS Li–Fraumeni syndrome
Genetics professionals’ experiences regarding providing genetic counselling for BRCA 1/2, CHEK2 and TP53-mutations during the initial counselling visit
| n | Yes | Sometimes | No | |
|---|---|---|---|---|
| Do you discuss the options of | ||||
| A. In case of referral for treatment-focused genetic counselling and testinga | 49 | 73% (36) | 27% (13) | – |
| B. In case of a regular referral | 54 | 58% (33) | 33% (19) | 4% (2) |
Sample size (n) is presented and varies per question due to missing data and because of the fact that some questions do not apply to all respondents. Percentages reflect the proportion of participants selecting the response category divided by the total number of respondents to the corresponding question or statement
LFS Li–Fraumeni syndrome, BC breast cancer, GT genetic testing
aReferral for treatment-focused genetic counselling and testing is indicated when decisions about primary breast cancer treatment could be impacted by genetic test results
Frequencies of genetics professionals’ ratings of information items as important or very important (n = 57)
| During counselling, you should… | (Very) important | |
|---|---|---|
| n | % | |
| Tumour spectrum | ||
| Explain that several cancers in addition to breast cancer may occur in individuals with LFS | 57 | 100 |
| Provide 1–3 examples of LFS-related cancers | 46 | 81 |
| Mention the four most common tumour types in individuals with LFS | 25 | 44 |
| Mutation detection rate | ||
| Tell that the | 57 | 100 |
| Specify the | 19 | 33 |
| Cancer risks | ||
| Explain that individuals with LFS are at high risk of developing cancer | 57 | 100 |
| Explain that individuals with LFS are at increased risk of developing a second cancer | 45 | 79 |
| Explain that individuals with LFS are at increased risk of developing multiple primary cancers | 42 | 74 |
| Specify cancer risk in individuals with LFS with a percentage | 15 | 26 |
| Tell that the overall lifetime cancer risk for women with LFS is higher than that for men | 11 | 19 |
| Other information items | ||
| Discuss possible consequences for family members if a | 54 | 95 |
| Mention there are limited screening options for | 53 | 93 |
| Discuss the option of additional support by a psychosocial professional | 51 | 90 |
| Explain that radiotherapy should be avoided in individuals with LFS | 49 | 86 |
| Tell that | 47 | 83 |
| Provide examples of possible reasons for or against performing | 40 | 70 |
| Mention the name of genetic disorder | 20 | 35 |
LFS Li–Fraumeni syndrome, MRI magnetic resonance imaging
Genetics professionals’ opinions regarding additional psychosocial support (n = 57)
| Additional support by a psychosocial professionala is desirable… | n | % |
|---|---|---|
| In case it is questionable whether the counsellee has foreseen the implications of | 50 | 88 |
| In case the counsellee is doubting about performing | 43 | 75 |
| In case family communication is problematic | 42 | 74 |
| In case a | 39 | 68 |
| In case a | 18 | 32 |
| In case of family history highly suggestive for LFS | 10 | 18 |
| For all counsellees who are offered | 3 | 5 |
| For all women diagnosed with BC < 30 years | 2 | 4 |
| In case the counsellee wants to become pregnant | 2 | 4 |
BC breast cancer, GT genetic testing, LFS Li–Fraumeni syndrome
aSocial worker or psychologist
Attitudes of genetics professionals regarding genetic counselling of women diagnosed with breast cancer < 30 years for LFS
| n | (Totally) disagree | Neutral | (Totally) agree | |
|---|---|---|---|---|
| A. Additional psychosocial support | ||||
| All young BC patients who are offered diagnostic TP53 GT should receive additional support by a psychosocial professional before TP53 GT is performed | 56 | 71% | 27% | 2% |
| B. Timing of genetic counselling and testing | ||||
| The option of TP53 GT should preferably be discussed after BRCA GT results are known | 55 | 55% | 24% | 22% |
| In case of a regular referral, the option of TP53 GT should preferably be discussed after BRCA GT results are known | 56 | 50% | 21% | 29% |
| In case of a regular referral, TP53 GT should preferably be performed after a second counselling visit | 56 | 43% | 25% | 32% |
| C. In general | ||||
| I (would) encounter difficulties in discussing the option of BRCA GT and possible consequences of a BRCA mutation with women diagnosed with BC < 30 years | 56 | 95% | 2% | 4% |
| I (would) encounter difficulties in discussing the option of TP53 GT and possible consequences of a TP53 mutation with women diagnosed with BC < 30 years | 56 | 61% | 11% | 29% |
Sample size (n) is presented and varies per question due to missing data. Percentages reflect the proportion of participants selecting the response category divided by the total number of respondents (per profession) to the corresponding statement
LFS Li–Fraumeni syndrome, BC breast cancer, GT genetic testing
Frequencies of reported reasons for encountering difficulties in providing genetic counselling of young breast cancer patients for LFS (n = 56)
| n | % | |
|---|---|---|
| Limited screening options for | 25 | 45 |
| Severity and diversity of tumour spectrum in | 21 | 38 |
| The psychosocial distress that might be induced | 12 | 21 |
| Young age at diagnosis (before age 30) | 5 | 9 |
| Low | 5 | 9 |
| Little experience in providing genetic counselling for LFS | 5 | 9 |
LFS Li–Fraumeni syndrome
Information items about LFS that should be discussed during pre-test genetic counselling
| Several cancers in addition to breast cancer may occur in individuals with LFS |
|---|
| 1–3 examples of LFS-related cancers |
| The |
| Individuals with LFS are at high risk of developing cancer |
| Individuals with LFS are at increased risk of developing a second cancer |
| Possible consequences for family members if a |
| There are limited screening options for |
| The option of additional support by a psychosocial professional |
| Radiotherapy should be avoided in individuals with LFS |
LFS Li–Fraumeni syndrome, MRI magnetic resonance imaging
Response rates per profession and hospital
| Invitations (n) | Respondents (n) | Response rate (%) | |
|---|---|---|---|
| Profession | |||
| Clinical geneticist | 50 | 35 | 70 |
| Genetic counsellor | 32 | 13 | 41 |
| Clinical geneticist-in-training | 24 | 9 | 38 |
| Hospital | |||
| AMC | 8 | 3 | 38 |
| AVL | 10 | 8 | 80 |
| Erasmus MC | 12 | 4 | 33 |
| LUMC | 14 | 8 | 57 |
| MUMC | 11 | 4 | 36 |
| Radboudumc | 17 | 9 | 53 |
| UMCG | 14 | 7 | 50 |
| UMCU | 12 | 9 | 75 |
| VUMC | 9 | 5 | 56 |
| Total | 106 | 57 | 54 |