A1 Journal article (refereed)
Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome (2021)


Kalamo, M., Mäenpää, J., Seppälä, T., Mecklin, J.-P., Pylvänäinen, K., & Staff, S. (2021). Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome. Hereditary Cancer in Clinical Practice, 19, Article 38. https://doi.org/10.1186/s13053-021-00194-x


JYU authors or editors


Publication details

All authors or editors: Kalamo, Mari; Mäenpää, Johanna; Seppälä, Toni; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Staff, Synnöve

Journal or series: Hereditary Cancer in Clinical Practice

ISSN: 1731-2302

eISSN: 1897-4287

Publication year: 2021

Publication date: 14/09/2021

Volume: 19

Article number: 38

Publisher: Biomed Central

Publication country: United Kingdom

Publication language: English

DOI: https://doi.org/10.1186/s13053-021-00194-x

Publication open access: Openly available

Publication channel open access: Open Access channel

Publication is parallel published (JYX): https://jyx.jyu.fi/handle/123456789/77816


Abstract

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.


Keywords: hereditary diseases; cancerous diseases; Lynch syndrome; testing; family planning; human relations; mental well-being

Free keywords: Lynch syndrome; hereditary cancer; testing; relationships; psychosocial wellbeing


Contributing organizations


Ministry reporting: Yes

Reporting Year: 2021

JUFO rating: 1


Last updated on 2022-20-09 at 13:58