Genomic Testing, Unexpected Consanguinity, and Adolescent Parents

2021 ◽  
Author(s):  
Michelle McGowan ◽  
Teneille Brown ◽  
Aimee B. Biller ◽  
Jennifer deSante‐Bertkau
Keyword(s):  
Adolescent Parents ◽  
Genomic Testing

Genomic Testing 101

2020 ◽  
Author(s):  
Team DFTB
Keyword(s):  
Genomic Testing

scholarly journals The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Graeme C. Black ◽  
◽  
Panagiotis Sergouniotis ◽  
Andrea Sodi ◽  
Bart P. Leroy ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Rare Diseases ◽  
Eye Diseases ◽  
Reference Network ◽  
Genomic Testing ◽  
Main Body ◽  
National Plan ◽  
Member States ◽  
Technological Advances ◽  
Number Of Patients

Abstract Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

scholarly journals Gestationalism and the Rights of Adolescent Mothers

2020 ◽  
Vol 7 (2) ◽  
pp. 239-254
Author(s):  
Teresa Baron
Keyword(s):  
Children And Adolescents ◽  
Adolescent Mothers ◽  
Adolescent Parents ◽  
Moral Rights ◽  
Parental Rights ◽  
Full Complement ◽  
The Right ◽  
Newborn Children

AbstractIn this paper, I explore the ways in which consideration of adolescent parents forces us to confront and question common presuppositions about parental rights. In particular, I argue that recognising the right of adolescent mothers not to be forcibly separated from their newborn children justifies rejecting the notion that parental rights are (a) all acquired in the same manner and (b) acquired as a ‘bundle’ of concomitant moral rights. I conclude that children and adolescents who conceive and give birth have some parental rights concerning their newborn children – in particular, the right not to be forcibly separated from those children – even if they do not have the ‘full complement’ of parental rights as we generally characterise these.

scholarly journals EPEN-45. NORMALIZING AND FACILITATING GENOMIC TESTING AT DIAGNOSIS IN PEDIATRIC EPENDYMOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii317-iii317
Author(s):  
Emily Owens Pickle ◽  
Ana Aguilar-Bonilla ◽  
Amy Smith
Keyword(s):  
Current Practice ◽  
Molecular Classification ◽  
Molecular Data ◽  
Molecular Profiling ◽  
Genomic Testing ◽  
Molecular Testing ◽  
Newly Diagnosed ◽  
Pediatric Ependymoma ◽  
Need Support ◽  
Almost All

Abstract The current consensus is that diagnosis and treatment of ependymoma should be based upon clinical and molecular classification. As we move into this paradigm, it is important all ependymoma cases undergo tumor collection, preservation, and molecular profiling at diagnosis. Our group of 6 sites gathered data on a cohort of 72 ependymoma cases. Sites were asked to report known molecular findings; 60/68 eligible cases (88%) did not include genetic findings. The low number of cases with molecular findings was surprising and since cases were diagnosed from as early as 2004, we asked collaborators to share their current practice in profiling (e.g., how frequently; in what setting were ependymomas sent for testing) to try and better understand current practice at sites. Since the publication of ependymoma molecular data, sites with a neuro-oncology program report sending almost all newly diagnosed ependymomas for molecular testing, whereas current practices at sites without dedicated neuro-oncology were less consistent. Profiling in the setting of relapse was more frequently reported at all centers. The implementation of molecular testing at diagnosis may need support at sites without dedicated neuro-oncology. Lead investigators for upcoming ependymoma clinical trials will need to think carefully about the logistics of profiling at centers where this is not standard practice at diagnosis.

scholarly journals Personalized Decision Making on Genomic Testing in Early Breast Cancer: Expanding the MINDACT Trial with Decision-Analytic Modeling

2021 ◽  
pp. 0272989X2199117
Author(s):  
Ewout W. Steyerberg ◽  
Liesbeth C. de Wreede ◽  
David van Klaveren ◽  
Patrick M. M. Bossuyt
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Genetic Testing ◽  
Early Stage ◽  
Pragmatic Trial ◽  
Genomic Signature ◽  
Genomic Testing ◽  
Analytic Modeling ◽  
Clinical Risk ◽  
Genomic Test

Background Genomic tests may improve upon clinical risk estimation with traditional prognostic factors. We aimed to explore how evidence on the prognostic strength of a genomic signature (clinical validity) can contribute to individualized decision making on starting chemotherapy for women with breast cancer (clinical utility). Methods The MINDACT trial was a randomized trial that enrolled 6693 women with early-stage breast cancer. A 70-gene signature (Mammaprint) was used to estimate genomic risk, and clinical risk was estimated by a dichotomized version of the Adjuvant!Online risk calculator. Women with discordant risk results were randomized to the use of chemotherapy. We simulated the full risk distribution of these women and estimated individual benefit, assuming a constant relative effect of chemotherapy. Results The trial showed a prognostic effect of the genomic signature (adjusted hazard ratio 2.4). A decision-analytic modeling approach identified far fewer women as candidates for genetic testing (4% rather than 50%) and fewer benefiting from chemotherapy (3% rather than 27%) as compared with the MINDACT trial report. The selection of women benefitting from genetic testing and chemotherapy depended strongly on the required benefit from treatment and the assumed therapeutic effect of chemotherapy. Conclusions A high-quality pragmatic trial was insufficient to directly inform clinical practice on the utility of a genomic test for individual women. The indication for genomic testing may be far more limited than suggested by the MINDACT trial.

scholarly journals Longitudinal and multi-tissue molecular diagnostics track somatic BRCA2 reversion mutations that correct the open reading frame of germline alteration upon clinical relapse

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Shelly Sorrells ◽  
Kelly E. McKinnon ◽  
Ashleigh McBratney ◽  
Christopher Sumey
Keyword(s):  
Disease Progression ◽  
Parp Inhibitor ◽  
Acquired Resistance ◽  
Open Reading Frame ◽  
Genomic Testing ◽  
Clinical Relapse ◽  
Resistance Mutations ◽  
Reading Frame ◽  
Germline Alteration ◽  
Over Time

AbstractBRCA-mutant cancers often develop therapeutic resistance through several mechanisms. Here, we report a case of pathogenic germline BRCA2-driven breast cancer monitored for disease progression and acquired resistance using longitudinal multi-tissue genomic testing. Briefly, genomic testing was performed throughout the course of disease on tumor tissue from multiple sites, circulating tumor DNA from blood plasma, and matched normal tissue. Genomic analyses identified actionable variants for targeted therapies, as well as emerging resistance mutations over time. Two unique BRCA2 somatic alterations (p.N255fs and p.D252fs) were identified upon resistance to PARP inhibitor and platinum treatment, respectively. Both alterations restored the open reading frame of the original germline alteration, likely accounting for acquired resistance. This case exemplifies the evolution of multiple subclonal BRCA reversion alterations over time and demonstrates the value of longitudinal multi-tissue genomic testing for monitoring disease progression, predicting measures of response, and evaluating treatment outcomes in oncology patients.

A Health Passport for Adolescent Parents and Their Children

2001 ◽  
Vol 40 (3) ◽  
pp. 169-172
Author(s):  
Catherine Stevens-Simon ◽  
Lisa Kelly ◽  
Robert M. Brayden
Keyword(s):  
Adolescent Parents

Adolescent Parents and Toddlers: Strategies for Intervention

1990 ◽  
Vol 7 (1) ◽  
pp. 22-27 ◽  
Author(s):  
Susan N. Van Cleve ◽  
Lois S. Sadler
Keyword(s):  
Adolescent Parents

scholarly journals Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

2021 ◽  
Author(s):  
Samantha Pollard ◽  
Deirdre Weymann ◽  
Jessica Dunne ◽  
Fatemeh Mayanloo ◽  
John Buckell ◽  
...  
Keyword(s):  
Focus Groups ◽  
Genetic Disease ◽  
Diagnostic Yield ◽  
Management Strategies ◽  
Health Benefit ◽  
Sampling Technique ◽  
Evidence Base ◽  
Current Evidence ◽  
Genomic Testing ◽  
Current Evidence Base

AbstractGenomic testing is becoming routine for diagnosing rare childhood genetic disease. Evidence underlying sustainable implementation is limited, focusing on short-term endpoints such as diagnostic yield, unable to fully characterize patient and family valued outcomes. Although genomic testing is becoming widely available, evidentiary and outcomes uncertainty persist as key challenges for implementation. We examine whether the current evidence base reflects public tolerance for uncertainty for genomics to diagnose rare childhood genetic disease. We conducted focus groups with general population parents in Vancouver, Canada, and Oxford, United Kingdom, to discuss expectations and concerns related to genomic testing to diagnose rare childhood genetic disease. Applying a purposive sampling technique, recruitment continued until thematic saturation was reached. Transcripts were analysed using thematic analysis. Thirty-three parents participated across four focus groups. Participants valued causal diagnoses alongside management strategies to improve patient health and wellbeing. Further, participants valued expanding the evidence base to reduce evidentiary uncertainty while ensuring security of information. Willingness to pay out of pocket for testing reflected perceived familial health benefit. Diagnostic yield fails to fully capture valued outcomes, and efforts to resolve uncertainty better reflect public priorities. Evaluations of genomic testing that fully integrate valued endpoints are necessary to ensure consistency with best practices and public willingness to accept the uncertain familial benefit.

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