“It’s something I’ve committed to longer term”: The impact of an immersion program for physicians on adoption of genomic medicine

2020 ◽  
Author(s):  
Melissa Martyn ◽  
Belinda McClaren ◽  
Monika Janinski ◽  
Elly Lynch ◽  
Fiona Cunningham ◽  
...  
Keyword(s):  
Genomic Medicine ◽  
Immersion Program ◽  
The Impact

An invited article: Bilingual education of majority-language children: The Immersion experiments in review

1983 ◽  
Vol 4 (1) ◽  
pp. 1-46 ◽  
Author(s):  
Fred Genesee
Keyword(s):  
Second Language ◽  
Language Proficiency ◽  
The United States ◽  
Language Immersion ◽  
Immersion Program ◽  
Social Settings ◽  
School Programs ◽  
Research Findings ◽  
Evaluative Research ◽  
The Impact

ABSTRACTSecond-language “Immersion” school programs that have been developed in Canada and the United States during the last two decades are described and the results of evaluative research pertaining to them are reviewed. Major Immersion program alternatives (i.e., Early, Delayed, and Late variants) along with their theoretical bases and pedagogical characteristics are described first. Research findings are then discussed with respect to the impact of participation in an Immersion program on the students' native-language development, academic achievement, second-language proficiency, and on their attitudes and second-language use. Also, the suitability of Immersion in different geographical/social settings and for students with distinctive, potentially handicapping characteristics is considered. It is concluded that second-language Immersion programs are feasible and effective forms of education for majority-language children with diverse characteristics.

Expanded molecular routine testing for targetable mutations in non-small cell lung cancer to reveal frequent co-occuring mutations.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e20596-e20596
Author(s):  
Anna Kostenko ◽  
Jana Fassunke ◽  
Susanne Steinhauser ◽  
Matthias Scheffler ◽  
Sabine Merkelbach-Bruse ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Overall Survival ◽  
Molecular Diagnostics ◽  
Clinical Data ◽  
Single Gene ◽  
Genomic Medicine ◽  
Genetic Alterations ◽  
Clinical Diagnostics ◽  
Central Platform ◽  
The Impact

e20596 Background: Using next-gen sequencing of predefined gene panels in routine clinical diagnostics of lung cancer allows, in contrast to single-gene assays, assessment of co-occuring mutations, which might underly heterogeneity of response to targeted drugs and survival. The Network Genomic Medicine (NGM) performs high sensitive next generation sequencing (NGS) based routine molecular diagnostics on a central platform for about 5000 inoperable lung cancer patients (pts) annually in Germany. Methods: NGS panel used in NGM consists of 17 genes to cover potentially targetable aberrations. Mutation analyses were run on an Illumina (MySeq) platform, while FISH analyses were performed separately. In 2016, we have started the evaluation of all NGM pts with available clinical data who had received NGS-based molecular diagnostics. In particular, we have focused on non-squamous (non-sq) and squamous (sq) NSCLC pts with co-occurring mutations: their frequency, significance and impact on overall survival. Results: From 2014 molecular genotyping was performed for 7,893 NGM pts (n = 7,246 NSCLC (5,667 non-sq and 1,487 sq pts) and n = 489 SCLC) with eligible clinical data. Genetic alterations in transformation-associated pathways were found in 79 % of all NSCLC pts. Furthermore, co-occurring mutations were detected in 39 % of these pts: 40 % in non-sq and 37 % in sq NSCLC. 11 % of pts had more than 2 co-occurring mutations. 1 % of all pts had 5 co-occurring mutations. The most frequent paired mutations were KRAS, EGFR and MET each with TP53 in non-sq and FRGF1 and TP53 in sq NSCLC. The incidences and significance of 3, 4 and 5 co-mutations as well as the impact of these co-occurring mutations on overall survival will be presented. Conclusions: Frequent occurrence of co-occuring mutations in transformation – associated pathways underlines the genetic heterogeneity also of lung cancer with classical driver mutation and the impact of co-occurring mutations on survival. This work confirms the use of molecular multiplex testing in routine molecular diagnostics of NSCLC. Assessment of co-occuring mutations will help to further specify genetically defined subgroups of lung cancer with therapeutic relevance.

KEAP1 mutations in squamous cell lung cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e21098-e21098
Author(s):  
Sophia Koleczko ◽  
Axel Hillmer ◽  
Abdel Hakim Bayarassou ◽  
Christian Grohé ◽  
Martin Buchenroth ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Overall Survival ◽  
Squamous Cell ◽  
Cell Lung Cancer ◽  
Systemic Treatment ◽  
Genomic Medicine ◽  
Stage Iv ◽  
Squamous Cell Lung Cancer ◽  
Control Group ◽  
The Impact

e21098 Background: KEAP1 mutations have been shown to decrease the efficacy of both chemotherapy (CTX) and immune-checkpoint inhibition (ICI) in lung adenocarcinoma. However, few is known about their impact on systemic treatment of squamous cell lung cancer (SqCC). The aim of this study was to assess the impact of KEAP1 mutations on systemic treatment outcome in SqCC. Methods: Tumor biopsies of SqCC patients were analyzed within the German Network Genomic Medicine (NGM) using a next-generation DNA sequencing (NGS) panel comprising 17 genes. In subsets, PD-L1 expression was tested with immunohistochemistry (IHC). MET amplification and FGFR1 amplification was tested with fluorescence in situ hybridization (FISH). Overall survival was estimated using Kaplan Meier statistics. For comparisons, we used log rank. A cohort with KEAP1 wild-type patients from the same panel served as control group. Results: Out of 1399 SqCC patients analyzed, 151 had a KEAP1 mutation (11%). The most common co-occurring mutations besides TP53 were PTEN, KRAS and NFE2L2. The median overall survival (OS) of stage IV KEAP1 mutated patients (n = 82) compared to stage IV control group patients (n = 82) was 7.3 vs. 11.4 months (hazard ratio (HR) 0.87 [95% confidence interval (CI) 0.62-1.23], p = 0.43). The addition of a second treatment line with ICI led to marked OS improvements in both KEAP1 mutant patient group (18.7 vs. 6.6 months, HR 0.11, [95% CI 0.04-0.25], p < 0.0001) and control group (20.3 vs. 5.0 months, HR 0.12 [95% CI 0.06-0.24], p < 0.0001). PD-L1 expression did not differ significantly in both groups. Conclusions: KEAP1 mutations occur commonly in SqCC patients and do not impact the efficacy of ICI in terms of OS. To identify prognostic markers for response to ICI further research is needed.

scholarly journals Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

Healthcare ◽  
2018 ◽  
Vol 6 (3) ◽  
pp. 83 ◽  
Author(s):  
Janet Williams ◽  
Wendy Chung ◽  
Alex Fedotov ◽  
Krzysztof Kiryluk ◽  
Chunhua Weng ◽  
...  
Keyword(s):  
Public Health ◽  
Health Outcomes ◽  
Working Group ◽  
Genetic Disorders ◽  
Genomic Medicine ◽  
Relevant Information ◽  
Health Records ◽  
Evidence Review ◽  
Genomic Results ◽  
The Impact

Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can be used across different programs to evaluate the impact of interventions targeted to specific genetic conditions. The eMERGE Outcomes working group (OWG) developed measures to collect information on outcomes following the return of genomic results to participants for several genetic disorders. These outcomes were compared to outcome intervention pairs for genetic disorders developed independently by the ClinGen Actionability working group (AWG). In general, there was concordance between the defined outcomes between the two groups. The ClinGen outcomes tended to be from a higher level and the AWG scored outcomes represented a subset of outcomes referenced in the accompanying AWG evidence review. eMERGE OWG outcomes were more detailed and discrete, facilitating a collection of relevant information from the health records. This paper demonstrates that common outcomes for genomic medicine interventions can be identified. Further work is needed to standardize outcomes across genomic medicine implementation projects and to make these publicly available to enhance dissemination and assist in making precision public health a reality.

Developing multicultural leaders through online language immersion

2021 ◽  
Vol 15 (4) ◽  
pp. 416-428
Author(s):  
Matthew B. Courtney
Keyword(s):  
Multicultural Education ◽  
Professional Learning ◽  
Oral Language ◽  
Language Instruction ◽  
Language Immersion ◽  
Learning Activity ◽  
Structured Interviews ◽  
Content Type ◽  
Immersion Program ◽  
The Impact

Purpose This study aims to document the impact of an 80-h virtual Spanish language immersion program on four elementary school leaders in Kentucky. Design/methodology/approach This study used a mixed methods approach. Each subject participated in three semi-structured interviews with the researcher and a standardized oral language assessment. Findings Participants expressed greater confidence when interacting with students and families who do not speak English, greater empathy for students learning English, new cross-cultural understandings and deeper knowledge about the language acquisition process and language instruction. Practical implications Training in a foreign language may prove to be a valuable professional learning activity for leaders seeking to develop a stronger skillset and mindset for multicultural education. Originality/value This paper contributes to the literature by documenting a previously un-researched virtual language immersion program.

The Impact of Diagnostic MRI on the Early Detection of Lethal Genes in Human Genome and to Develop Genomic Medicine to Treat Brain Cancers

2021 ◽  
Vol 5 (6) ◽  
Author(s):  
Hameed Khan A
Keyword(s):  
Early Detection ◽  
Brain Cancer ◽  
Genomic Medicine ◽  
Three Dimensional ◽  
Good Health ◽  
Rational Approach ◽  
Chemotherapeutic Approach ◽  
The Impact ◽  
The Brain ◽  
Lethal Genes

Early detection of the onset of diseases are essential if we want to maintain good health. MRI technique provides a three-dimensional image of a microscopic lesion in an organ. Human body is made of 220 different tissues which interact to make an organ and several organs interact to make a human. As a part of medical record, taking MRI of each organ every year and comparing them with each other will identify the appearance of microscopic changes. For example, if you are diagnosed with Brain cancer today, you did not get the cancer yesterday. Abnormal changes are the result of accumulation of harmful mutations over the years predicting the onset of diseases. Once the brain tumor is confirmed, the patient dies within fourteen months. To save the life of the patient, the following three strategies are available and they are Surgery, Radiation and Chemotherapy. This article describes the Chemotherapeutic approach to treat cancers in general and brain cancer, Glioblastoma, in particular. Using rational approach, we designed AZQ (US Patent 4,146,622 & 4,233,215) to treat Glioblastomas. MRI Would identify appearance of microscopic lesions of Glioblastoma and help us start treatment with AZQ long before the disease is confirmed. Using similar rational approach of early diagnosis with MRI, we could design drugs to treat other diseases including cancers.

What Can the Slim Initiative in Genomic Medicine for the Americas (SIGMA) Contribute to Preventing, Treating, or Decreasing the Impact of Diabetes among Mexicans and Latin Americans?

2018 ◽  
Vol 5 (1) ◽  
Author(s):  
Claudia Chaufan
Keyword(s):  
Selective Breeding ◽  
Current Knowledge ◽  
Genomic Medicine ◽  
Current Debate ◽  
Social Scientists ◽  
Latin Americans ◽  
Complex Phenotypes ◽  
Common Diseases ◽  
The Impact ◽  
Research Endeavor

In this commentary I set aside the potentially fruitful question of whether social scientists should be open to or reject genetic conceptions of race in research that purports to contribute to improving health and reducing health inequalities. I address instead the science underlying one such research endeavor: the Slim Initiative in Genomic Medicine for the Americas (SIGMA), which triggered the current debate. I argue that SIGMA, like similar studies, has nothing to add to current knowledge about how to prevent, treat, or decrease inequalities pertaining to common diseases such as diabetes, and that therefore there is no social value in pursuing them. I also engage conceptual problems with the notions of “genetic predisposition” and “heritability,” both of which I have discussed in detail elsewhere. The basic thrust of my argument is that (1) the nonadditive and developmental nature of complex phenotypes like diabetes precludes the empirical identification of whatever may be meant by “predisposing gene variants” and (2) heritability measures are useful only for selective breeding and therefore of no relevance to research in human health. I conclude that identifying genes presumed to “predispose” individuals or populations to diabetes and other common diseases is a fruitless enterprise, whether “predisposed” populations are organized around race or any other category.

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