Despite much theory about how genetic counseling facilitates prenatal decision‐making, there are limited data regarding patients’ perceptions of the process and the role of the genetic counselor (GC). Our aim in this study was to explore patients’ perceptions of their prenatal genetic counseling session, with a focus on their relationship with their GC and how factors inside and outside the session influenced their decision‐making about amniocentesis. We performed a qualitative study with patients who had seen a GC after maternal serum screening revealed an increased risk for aneuploidy. Semistructured interviews were transcribed verbatim, and analyzed using a constant comparative method. To complement and triangulate with these data, we used a secondary quantitative measure—the 6‐item Satisfaction With Decision‐making (SWD) scale, and questionnaires completed by participants’ GCs. Eleven patients participated and four predominant themes emerged from our data: (1) being unprepared; (2) recognizing responsibility for decision‐making; (3) the burden of responsibility; and (4) the impact of support through affirmation. Despite the underlying tension within these themes, patients reported high satisfaction with their decisions (SWD mean score = 28.5/30, range: 26–30). Patients perceived their GCs to be nonbiased yet supportive in the decision‐making process. Patients described feeling affirmed, but not swayed in their decision.
Background Super-Seniors are healthy, long-lived individuals who were recruited at age 85 years or older with no history of cancer, cardiovascular disease, diabetes, dementia, or major pulmonary disease. In a 10-year follow-up, we aimed to determine whether surviving Super-Seniors showed compression of morbidity, and to test whether the allele frequencies of longevity-associated variants in APOE and FOXO3 were more extreme in such long-term survivors. Methods Super-Seniors who survived and were contactable were re-interviewed 10 years after initial characterization. Health and lifestyle were characterized via questionnaire. Geriatric tests including the Timed Up and Go (TUG), Geriatric Depression Scale (GDS), Instrumental Activities of Daily Living (IADL) and the Mini-Mental State Exam (MMSE) were administered, and data were compared to results from on average 10 years earlier. As well, genotype and allele frequencies for SNPs rs7412 and rs429358 in APOE , and rs2802292 in FOXO3 were compared to the frequencies in the original collection of Super-Seniors and mid-life controls. Results Of the 480 Super-Seniors recruited from 2004 to 2007, 13 were alive, contactable, and consented to re-interview (mean age = 100.1 ± 3.3). Eight of these 13 participants (62%) still met Super-Senior health criteria. Diseases that occurred in late life were cardiovascular (5 of 13; 38%) and lung disease (1 of 13; 8%). MMSE and IADL scores declined in the decade between interviews, and GDS and TUG scores increased. The surviving group of centenarians had a higher frequency of APOE and FOXO3 longevity-associated variants even when compared to the original long-lived Super-Senior cohort. Conclusions Although physical and mental decline occurred in the decade between interviews, the majority of Super-Seniors re-interviewed still met the original health criteria. These observations are consistent with reports of compression of morbidity at extreme ages, particularly in centenarians. The increased frequency of longevity- associated variants in this small group of survivors is consistent with studies that reported genetics as a larger contributor to longevity in older age groups. Electronic supplementary material The online version of this article (10.1186/s12877-019-1080-8) contains supplementary material, which is available to authorized users.
Introduction Lymphoid cancers are a heterogeneous group of neoplasms that arise from immune cells. Familial clustering of lymphoid cancers support a genetic contribution to cancer predisposition. Infectious diseases and some immune disorders have been associated with lymphoid cancers. The hygiene hypothesis proposes that a lower infectious burden during early life inhibits the immune system from maturing optimally, and may lead to disorders of the immune system. Material and methods We characterised atopic conditions in lymphoid affected sibships of 182 families with a history of lymphoid cancers. Early life data was collected from telephone interviews and questionnaires from multiple family members. When available, medical records, pathology slides and tissue blocks were used to confirm the lymphoid cancer diagnosis. Lymphoid cancers were classified according to the InterLymph hierarchical classification (Turner, 2010). A chi-squared test for a linear trend in proportions was performed on birth order data for lymphoid affected sibships. This test was also performed on birth order and allergies in lymphoid affected sibships. Results and discussions Within 182 families, 301 sibships had 392 lymphoid affected and 927 unaffected siblings. We observed an inverse relationship between birth order and risk of cancer for all lymphoid cancers collectively (p<0.0001), and separately for multiple myeloma (p=0.0015), non-Hodgkin lymphoma (p<0.0001) and individual B-cell subtypes including chronic lymphocytic leukaemia (p=0.0124), follicular (p=0.0217) and marginal zone lymphoma (p=0.0169). We also observed an inverse relationship between birth order and risk of allergies (p=0.0284), for both environmental allergies (p=0.0465) and multiple allergies (p=0.0114) in lymphoid affected individuals. Conclusion Early life exposures that are dependent on birth order may play a role in immune dysregulation and subsequent risk of multiple types of lymphoid cancers, as well as allergies. The familial nature of the cancers implies shared genetic and/or environmental factors. There is a need for further evaluation of lifestyle factors that may protect against lymphoid cancers even in the familial context.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.