Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome

Mari Kalamo, Johanna Mäenpää, Toni Seppälä, Jukka Pekka Mecklin, Kirsi Pylvänäinen, Synnöve Staff

Tutkimustuotos: ArtikkeliScientificvertaisarvioitu

Abstrakti

Background: Due to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer counselling to women with pathogenic variant and advocate risk-reducing surgery (RRS) after completion of childbirth. The present study aimed to clarify the impacts of positive germline testing on family planning and reproductive decisions of these women, which are relatively unknown. Methods: Seventy-nine carriers of germline MMR gene pathogenic variant (path_MMR) were identified from the Finnish LS Registry as having genetic testing performed before the age of 45 years and not having undergone hysterectomy or oophorectomy. These women were sent a questionnaire concerning family planning, intimate relationships and psychosocial wellbeing. Results: Thirty-five women (44.3%) responded. Parity of path_MMR carriers (2.1) was slightly higher than parity among Finnish women in general (1.8). No significant differences were found between parity, number of induced abortions or sterilizations before and after genetic testing. Only minority of subjects reported any influence on family planning (20%) or negative impact on feminine self and body image (14%). Conclusions: The positive germline testing does not seem to have a major negative impact on family planning, intimate relationships or feminine self and body image. According to the open comments, counselling, supportive and empathic attitude of the professionals seem to have a significant impact on this. These results are a valuable addition to the counselling of LS women at reproductive age.

AlkuperäiskieliEnglanti
Artikkeli38
Sivumäärä7
JulkaisuHEREDITARY CANCER IN CLINICAL PRACTICE
Vuosikerta19
DOI - pysyväislinkit
TilaJulkaistu - syysk. 2021
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä

Julkaisufoorumi-taso

  • Jufo-taso 1

!!ASJC Scopus subject areas

  • Oncology
  • Genetics(clinical)

Sormenjälki

Sukella tutkimusaiheisiin 'Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome'. Ne muodostavat yhdessä ainutlaatuisen sormenjäljen.

Siteeraa tätä