When Genetic Screening is Useful, but not Used

In families with genetic disorders due to a known genetic mutation, presymptomatic genetic testing can lead to early detection and treatment of inherited disorders that may manifest later in life. The health benefits for family members at increased risk, however, is limited by the predictive value of the genetic test, the availability of effective treatments, and individuals’ and families’ willingness to undergo genetic testing in the first place. This Issue Brief describes the case of a genetic condition for which genetic screening of family members is clearly useful, and just as clearly underused. It explores the barriers to the use of genetic screening and has implications for the future as genetic technologies become more complex and produce more uncertainty

Genomic Variation: What Does It Mean?

New technologies have given us the ability to detect genomic variation at resolutions 50-100 times greater than earlier tests. The good news is that we can now detect variations that help explain developmental delays, autism, or multiple congenital anomalies in up to 20% of children. The bad news is that we can also detect small missing or extra pieces of chromosomes that remain unexplained: that is, we don’t know whether they have any clinical significance at all. The rapid pace of technological change may have outpaced the lab’s ability to interpret, providers’ abilities to explain, and patients’ abilities to understand the test results. This Issue Brief summarizes a series of studies examining the uncertainties revolving around chromosomal microarray testing, which has become the new standard of practice in genetic testing of children with unexplained anomalies

How do we decide what to do? Resting-state connectivity patterns and components of self-generated thought linked to the development of more concrete personal goals

Human cognition is not limited to the available environmental input but can consider realities that are different to the here and now. We describe the cognitive states and neural processes linked to the refinement of descriptions of personal goals. When personal goals became concrete, participants reported greater thoughts about the self and the future during mind-wandering. This pattern was not observed for descriptions of TV programmes. Connectivity analysis of participants who underwent a resting-state functional magnetic resonance imaging scan revealed neural traits associated with this pattern. Strong hippocampal connectivity with ventromedial pre-frontal cortex was common to better-specified descriptions of goals and TV programmes, while connectivity between hippocampus and the pre-supplementary motor area was associated with individuals whose goals were initially abstract but became more concrete over the course of the experiment. We conclude that self-generated cognition that arises during the mind-wandering state can allow goals to be refined, and this depends on neural systems anchored in the hippocampus

“Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing

As the use of genomic technology has expanded in research and clinical settings, issues surrounding informed consent for genome and exome sequencing have surfaced. Despite the importance of informed consent, little is known about the specific challenges that professionals encounter when consenting patients or research participants for genomic sequencing. We interviewed 29 genetic counselors and research coordinators with considerable experience obtaining informed consent for genomic sequencing to understand their experiences and perspectives. As part of this interview, 24 interviewees discussed an informed consent case they found particularly memorable or challenging. We analyzed these case examples to determine the primary issue or challenge represented by each case. Challenges fell into two domains: participant understanding, and facilitating decisions about testing or research participation. Challenges related to participant understanding included varying levels of general and genomic literacy, difficulty managing participant expectations, and contextual factors that impeded participant understanding. Challenges related to facilitating decision-making included complicated family dynamics such as disagreement or coercion, situations in which it was unclear whether sequencing research would be a good use of participant time or resources, and situations in which the professional experienced disagreement or discomfort with participant decisions. The issues highlighted in these case examples are instructive in preparing genetics professionals to obtain informed consent for genomic sequencing

How do we decide what to do? : Resting-state connectivity patterns and components of self-generated thought linked to the development of more concrete personal goals

Human cognition is not limited to the available environmental input but can consider realities that are different to the here and now. We describe the cognitive states and neural processes linked to the refinement of descriptions of personal goals. When personal goals became concrete, participants reported greater thoughts about the self and the future during mind-wandering. This pattern was not observed for descriptions of TV programmes. Connectivity analysis of participants who underwent a resting-state functional magnetic resonance imaging scan revealed neural traits associated with this pattern. Strong hippocampal connectivity with ventromedial pre-frontal cortex was common to better-specified descriptions of goals and TV programmes, while connectivity between hippocampus and the pre-supplementary motor area was associated with individuals whose goals were initially abstract but became more concrete over the course of the experiment. We conclude that self-generated cognition that arises during the mind-wandering state can allow goals to be refined, and this depends on neural systems anchored in the hippocampus

Word-initial rhotic clusters in Spanish-speaking preschoolers in Chile and Granada, Spain

Versión aceptada Versión online publicada en 2017 Versión Print publicada en 2018The current paper describes Spanish acquisition of rhotic onset clusters. Data are also provided on related singleton taps/trills and /l/ as a single ton and in clusters. Participants included 9 typically developing (TD) toddlers and 30 TD preschoolers in Chile, and 30 TD preschoolers and 29 with protracted phonological development (PPD) in Granada, Spain. Results showed age and developmental group effects. Preservation of cluster timing units preceded segmental accuracy, especially in stressed syllables. Tap clusters versus singleton trills were variable in order of mastery, some children mastering clusters first, and others, the trill. Rhotics were acquired later than /l/. In early development, mismatches (errors) involved primarily deletion of taps; where substitutions occurred, [j] frequently replaced tap. In later development, [l] more frequently replaced tap; where taps did occur, vowel epenthesis sometimes occurred. The data serve as a criterion reference database for onset cluster acquisition in Chilean and Granada Spanish.Thank you also for funding by the: - Social Sciences and Humanities Research Council of Canada grant 410-2009-0348, - Programa FONDECYT de la Comisión Nacional de Investigación Científica y Tecnológica CONICYT [National Commission for Scientific and Technological Investigation] in Chile. - Junta de Andalucía in Spain, Grupo de Investigación Hum-605, Logopedia Experimental y Aplicada [Experimental and applied speech-language pathology]

Cold Atmospheric Pressure Plasma in Wound Healing and Cancer Treatment

Plasma medicine is gaining increasing attention and is moving from basic research into clinical practice. While areas of application are diverse, much research has been conducted assessing the use of cold atmospheric pressure plasma (CAP) in wound healing and cancer treatment—two applications with entirely different goals. In wound healing, a tissue-stimulating effect is intended, whereas cancer therapy aims at killing malignant cells. In this review, we provide an overview of the latest clinical and some preclinical research on the efficacy of CAP in wound healing and cancer therapy. Furthermore, we discuss the current understanding of molecular signaling mechanisms triggered by CAP that grant CAP its antiseptic and tissue regenerating or anti-proliferative and cell death-inducing properties. For the efficacy of CAP in wound healing, already substantial evidence from clinical studies is available, while evidence for therapeutic effects of CAP in oncology is mainly from in vitro and in vivo animal studies. Efforts to elucidate the mode of action of CAP suggest that different components, such as ultraviolet (UV) radiation, electromagnetic fields, and reactive species, may act synergistically, with reactive species being regarded as the major effector by modulating complex and concentration-dependent redox signaling pathways

Counselees’ Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study

Genomic applications raise multiple challenges including the optimization of genomic counseling (GC) services as part of the results delivery process. More information on patients’ motivations, preferences, and informational needs are essential to guide the development of new, more efficient practice delivery models that capitalize on the existing strengths of a limited genetic counseling workforce. Semi‐structured telephone interviews were conducted with a subset of counselees from the Coriell Personalized Medicine Collaborative following online receipt of multiple personalized genomic test reports. Participants previously had either in‐person GC (chronic disease cohort, n = 20; mean age 60 years) or telephone GC (community cohort, n = 31; mean age 46.8 years). Transcripts were analyzed using a Grounded Theory framework. Major themes that emerged from the interviews include 1) primary reasons for seeking GC were to clarify results, put results into perspective relative to other health‐related concerns, and to receive personalized recommendations; 2) there is need for a more participant driven approach in terms of mode of GC communication (in‐person, phone, video), and refining the counseling agenda pre‐session; and 3) there was strong interest in the option of follow up GC. By clarifying counselees’ expectations, views and desired outcomes, we have uncovered a need for a more participant‐driven GC model when potentially actionable genomic results are received online.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146805/1/jgc40738.pd

Erratum to: How Can Psychological Science Inform Research About Genetic Counseling for Clinical Genomic Sequencing?

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147141/1/jgc40372.pd