Personalized Genomic Results: Analysis of Informational Needs

2014 ◽  
Vol 23 (4) ◽  
pp. 578-587 ◽  
Author(s):  
Tara J. Schmidlen ◽  
Lisa Wawak ◽  
Rachel Kasper ◽  
J. Felipe García-España ◽  
Michael F. Christman ◽  
...  
2016 ◽  
Vol 2 (1) ◽  
pp. 62-78
Author(s):  
. Hemraj ◽  
Raj Kumar ◽  
Sourabh Kosey ◽  
Amit Sharma ◽  
Nalini Negi

To determine the most common physical side effects experienced by local chemotherapy patients. Their perceptions of these side effects and informational needs from clinical pharmacists were also evaluated. This was a single center, observational cross-sectional study conducted at department of General Surgery, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab. A face to face interview was conducted. Information collected included chemotherapy related side effects after last chemotherapy experience, the most worrisome side effects, overlooked by healthcare professionals and the preferred method, amount and source of receiving related information. In this study, hundred patients were enrolled out of them 48 were male and 52 were female. When differential calculations was done, common side effects or adverse effects of chemotherapy in the patients of breast, lung cancer, Ovarian Cancer, Colon cancer, Prostate cancer, Lymphoma Cancer, Cervix cancer where there is much irregular medicine intake 57.4% may be due to common problem of joint pain reported by all the patients under study, with the consecutive problem of nausea and vomiting. The high prevalence of chemotherapy related side effects among local patients is a major concern and findings of their perceptions and informational needs may serve as a valuable guide for clinical pharmacists and physicians to help in side effect management. This study shows the common problems reported by the patients when they are suffering from cancer condition, according to their incidence perceptions as experienced by the patient, this will allow the physician and clinical pharmacist to effectively counsel and manage the common symptoms as reported prior to its occurrence in the patient, so that withdrawal can be checked.


2021 ◽  
Vol 11 (6) ◽  
pp. 570
Author(s):  
Rebecca L. Hsu ◽  
Amanda M. Gutierrez ◽  
Sophie K. Schellhammer ◽  
Jill O. Robinson ◽  
Sarah Scollon ◽  
...  

Pediatric oncologists’ perspectives around returning and incorporating tumor and germline genomic sequencing (GS) results into cancer care are not well-described. To inform optimization of cancer genomics communication, we assessed oncologists’ experiences with return of genomic results (ROR), including their preparation/readiness for ROR, collaboration with genetic counselors (GCs) during ROR, and perceived challenges. The BASIC3 study paired pediatric oncologists with GCs to return results to patients’ families. We thematically analyzed 24 interviews with 12 oncologists at two post-ROR time points. Oncologists found pre-ROR meetings with GCs and geneticists essential to interpreting patients’ reports and communicating results to families. Most oncologists took a collaborative ROR approach where they discussed tumor findings and GCs discussed germline findings. Oncologists perceived many roles for GCs during ROR, including answering families’ questions and describing information in lay language. Challenges identified included conveying uncertain information in accessible language, limits of oncologists’ genetics expertise, and navigating families’ emotional responses. Oncologists emphasized how GCs’ and geneticists’ support was essential to ROR, especially for germline findings. GS can be successfully integrated into cancer care, but to account for the GC shortage, alternative ROR models and access to genetics resources will be needed to better support families and avoid burdening oncologists.


2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Noura S. Abul-Husn ◽  
Emily R. Soper ◽  
Giovanna T. Braganza ◽  
Jessica E. Rodriguez ◽  
Natasha Zeid ◽  
...  

Abstract Background Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry. Methods We initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results. Results In the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results. Conclusions The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.


1997 ◽  
Vol 8 (3) ◽  
pp. 154-158 ◽  
Author(s):  
Baruch Fischhoff ◽  
Julie Downs

People need information in order to make effective choices and to feel competent in managing their own affairs Decision-making research provides tools for identifying and addressing these informational needs The tools allow formal analyses of what information is critical to particular decisions, as well as descriptive analyses of how well those facts are understood Communication should be focused on critical information that is either missing or available but not understood Decision-relevant situations range from ones posing well-formulated, imminent choices to ones in which people are trying to understand what choices are even possible This article reviews briefly the formal and descriptive approaches to dealing with such decisions Including these approaches in behavioral interventions might help people to be as systematic as they would like in their decision making It might even make them want to be more systematic


2011 ◽  
Vol 9 (2) ◽  
pp. 272-275 ◽  
Author(s):  
Albina R. Franco ◽  
Carla Santos ◽  
Mariana Roriz ◽  
Rui Rodrigues ◽  
Marta R. M. Lima ◽  
...  

Pine wilt disease, caused by the pinewood nematode Bursaphelenchus xylophilus (Steiner and Buhrer) Nickle, is originating severe infections in pine trees. The disease is detected when external symptoms appear (e.g. needle chlorosis), but trees could remain asymptomatic for long periods and serve as a long-term host. The primary goal of this study was to assess the effect of inoculation with an avirulent isolate of B. xylophilus (C14-5) on different Pinus spp. seedlings (P. sylvestris, P. nigra, P. pinea and P. pinaster). At the same time, seedlings were also inoculated with a virulent strain, HF, in order to compare the phenotypic and genomic results of the two types of inoculations. The effect of inoculation was determined in terms of expression of various Pinus genes potentially involved in the response to the disease.The results suggest that P. pinea and P. nigra are more resistant to infection by the nematode than P. sylvestris and P. pinaster. The phenotypic and genetic differences were more marked among P. pinea and P. pinaster.


2017 ◽  
Vol 33 (4) ◽  
pp. 847-856 ◽  
Author(s):  
Janet Papadakos ◽  
Maurene McQuestion ◽  
Anandita Gokhale ◽  
Ali Damji ◽  
Aileen Trang ◽  
...  

1997 ◽  
Vol 13 (1) ◽  
pp. 49-58 ◽  
Author(s):  
Albert E. Beaton ◽  
Michael O. Martin ◽  
Ina V.S. Mullis

Policy-makers in many nations of the world are involved in educational reforms. In order to make effective educational decisions for the 21st century, policy-makers need information of a wide variety of kinds, for example, comparative performance data and curriculum information from other nations. National assessments can be valuable, but international surveys provide a broader base of information and allow countries to view their current status and planning within an international perspective. The purpose of this paper is to describe the goals of the Third International Mathematics and Science Study and the steps being followed to insure that the results from the study will meet the diverse informational needs of policy-makers.


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