scholarly journals Ethical and Psychosocial Implications of Genomic Newborn Screening

2021 ◽  
Vol 7 (1) ◽  
pp. 2
Author(s):  
Harvey L. Levy
Keyword(s):  
Newborn Screening ◽  
Ethical Issues ◽  
Negative Consequences ◽  
Coding Region ◽  
Normal Children ◽  
Genomic Screening ◽  
Impossible Task ◽  
Diagnosis Therapy ◽  
Substantial Uncertainty

The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening (NBS), raises very significant ethical issues. Regardless of whether NBS of this type would include entire genomes or only the coding region of the genome (exome screening) or even sequencing specific genes, the ethical issues raised would be enormous. These issues include the limitations of bioinformatic interpretation of identified variants in terms of pathogenicity and accurate prognosis, the potential for substantial uncertainty about appropriate diagnosis, therapy, and follow-up, the possibility of much anxiety among providers and parents, the potential for unnecessary treatment and “medicalizing” normal children, the possibility of adding large medical costs for otherwise unnecessary follow-up and testing, the potential for negatively impacting medical and life insurance, and the almost impossible task of obtaining truly-informed consent. Moreover, the potentially-negative consequences of adding genomic sequencing to NBS might jeopardize all of NBS which has been and continues to be so beneficial for thousands of children and their families throughout the world.

Research Participation Experiences of Informants of Suicide and Control Cases

Crisis ◽  
2010 ◽  
Vol 31 (5) ◽  
pp. 238-246 ◽  
Author(s):  
Paul W. C. Wong ◽  
Wincy S. C. Chan ◽  
Philip S. L. Beh ◽  
Fiona W. S. Yau ◽  
Paul S. F. Yip ◽  
...  
Keyword(s):  
Ethical Issues ◽  
Research Participation ◽  
Self Report ◽  
Initial Contact ◽  
Psychological Autopsy ◽  
Autopsy Study ◽  
The People ◽  
And Control ◽  
The Impact

Background: Ethical issues have been raised about using the psychological autopsy approach in the study of suicide. The impact on informants of control cases who participated in case-control psychological autopsy studies has not been investigated. Aims: (1) To investigate whether informants of suicide cases recruited by two approaches (coroners’ court and public mortuaries) respond differently to the initial contact by the research team. (2) To explore the reactions, reasons for participation, and comments of both the informants of suicide and control cases to psychological autopsy interviews. (3) To investigate the impact of the interviews on informants of suicide cases about a month after the interviews. Methods: A self-report questionnaire was used for the informants of both suicide and control cases. Telephone follow-up interviews were conducted with the informants of suicide cases. Results: The majority of the informants of suicide cases, regardless of the initial route of contact, as well as the control cases were positive about being approached to take part in the study. A minority of informants of suicide and control cases found the experience of talking about their family member to be more upsetting than expected. The telephone follow-up interviews showed that none of the informants of suicide cases reported being distressed by the psychological autopsy interviews. Limitations: The acceptance rate for our original psychological autopsy study was modest. Conclusions: The findings of this study are useful for future participants and researchers in measuring the potential benefits and risks of participating in similar sensitive research. Psychological autopsy interviews may be utilized as an active engagement approach to reach out to the people bereaved by suicide, especially in places where the postvention work is underdeveloped.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals Integrating Genomic Screening into Primary Care: Provider Experiences Caring for Latino Patients at a Community-Based Health Center

2021 ◽  
Vol 12 ◽  
pp. 215013272110002
Author(s):  
Tarika Srinivasan ◽  
Erica J. Sutton ◽  
Annika T. Beck ◽  
Idali Cuellar ◽  
Valentina Hernandez ◽  
...  
Keyword(s):  
Primary Care ◽  
Health Care ◽  
Patient Care ◽  
Health Center ◽  
Care Provider ◽  
Primary Care Provider ◽  
Genomic Sequencing ◽  
Community Based ◽  
Genomic Screening

Introduction: Minority communities have had limited access to advances in genomic medicine. Mayo Clinic and Mountain Park Health Center, a Federally Qualified Health Center in Phoenix, Arizona, partnered to assess the feasibility of offering genomic screening to Latino patients receiving care at a community-based health center. We examined primary care provider (PCP) experiences reporting genomic screening results and integrating those results into patient care. Methods: We conducted open-ended, semi-structured interviews with PCPs and other members of the health care team charged with supporting patients who received positive genomic screening results. Interviews were recorded, transcribed, and analyzed thematically. Results: Of the 500 patients who pursued genomic screening, 10 received results indicating a genetic variant that warranted clinical management. PCPs felt genomic screening was valuable to patients and their families, and that genomic research should strive to include underrepresented minorities. Providers identified multiple challenges integrating genomic sequencing into patient care, including difficulties maintaining patient contact over time; arranging follow-up medical care; and managing results in an environment with limited genetics expertise. Providers also reflected on the ethics of offering genomic sequencing to patients who may not be able to pursue diagnostic testing or follow-up care due to financial constraints. Conclusions: Our results highlight the potential benefits and challenges of bringing advances in precision medicine to community-based health centers serving under-resourced populations. By proactively considering patient support needs, and identifying financial assistance programs and patient-referral mechanisms to support patients who may need specialized medical care, PCPs and other health care providers can help to ensure that precision medicine lives up to its full potential as a tool for improving patient care.

How Do Public Service Professionals Behave in Risky Situations? The Importance of Organizational Culture

2021 ◽  
pp. 027507402110103
Author(s):  
Emily Rose Tangsgaard
Keyword(s):  
Organizational Culture ◽  
Risk Perception ◽  
Public Service ◽  
Health Professionals ◽  
Organizational Cultures ◽  
Negative Consequences ◽  
Seeking Behavior ◽  
Subsequent Behavior ◽  
Hospital Wards

Many situations in public service delivery are characterized by uncertainty about the potential negative consequences following decisions. These risky situations make the behavior of frontline professionals particularly important. But what shapes the risk perception and subsequent behavior of frontline professionals in risky situations? This article explores the idea that organizational culture provides part of the answer. To examine this, a comprehensive qualitative study with participant observations and interviews at five public hospital wards was conducted. The findings demonstrate the importance of organizational culture on risk perception and behavior in risky situations. Basic cultural assumptions related to professional discussion, administering medicine, grading of adverse events, and prioritizing follow-up activities matter to behavior in risky situations. In organizational cultures with high levels of trust and dialogue about decision-making, the health professionals rely on each other and ask for second opinions, when making decisions in risky situations. Conversely, in organizational cultures with little trust and professional discussion, the health professionals are less likely to ask for second opinions and follow up on risky situations, which increases the possibility of unintended, negative consequences. In this way, organizational culture can be a driver of risk-reducing and risk-seeking behavior among frontline professionals.

scholarly journals Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease

2017 ◽  
Vol 63 (7) ◽  
pp. 1271-1277 ◽  
Author(s):  
Hsuan-Chieh Liao ◽  
Min-Ju Chan ◽  
Chia-Feng Yang ◽  
Chuan-Chi Chiang ◽  
Dau-Ming Niu ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
Asian Population ◽  
Dried Blood Spots ◽  
Fluorimetric Assay ◽  
Analytical Range ◽  
Patient Referrals

Abstract BACKGROUND Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. Newborn screening for Pompe disease is ongoing, and improved methods for distinguishing affected patients from those with pseudodeficiency, especially in the Asian population, would substantially reduce the number of patient referrals for clinical follow-up. METHODS We measured the enzymatic activity of GAA in dried blood spots on newborn screening cards (DBS) using a tandem mass spectrometry (MS/MS) assay. The assay displayed a relatively large analytical range compared to the fluorimetric assay with 4-methylumbelliferyl-α-glucoside. DBS from newborns confirmed to have infantile-onset Pompe disease (IOPD, n = 11) or late-onset Pompe disease (LOPD) (n = 12) and those from patients bearing pseudodeficiency alleles with or without Pompe mutations, or Pompe disease carriers (n = 230) were studied. RESULTS With use of the MS/MS GAA assay in DBS, 96% of the pseudodeficiency newborns and all of the Pompe disease carriers were well separated from the IOPD and LOPD newborns. The fluorimetric assay separated <10% of the pseudodeficiencies from the IOPD/LOPD group. CONCLUSIONS The relatively large analytical range MS/MS GAA assay but not the fluorimetric assay in DBS provides a robust approach to reduce the number of referrals and should dramatically facilitate newborn screening of Pompe disease.

scholarly journals Neonates with Maternal Colonization of Carbapenemase-Producing, Carbapenem-Resistant Enterobacteriaceae: A Mini-Review and a Suggested Guide for Preventing Neonatal Infection

Children ◽  
2021 ◽  
Vol 8 (5) ◽  
pp. 399
Author(s):  
Judy Seesahai ◽  
Paige Terrien Church ◽  
Elizabeth Asztalos ◽  
Melanee Eng-Chong ◽  
Jo Arbus ◽  
...  
Keyword(s):  
Neonatal Intensive Care ◽  
Neonatal Infection ◽  
Control Measures ◽  
Resistant Bacteria ◽  
Negative Consequences ◽  
Duration Of Treatment ◽  
Contact Precautions ◽  
Carbapenem Resistant ◽  
Carbapenem Resistant Enterobacteriaceae

Carbapenemase-producing, carbapenem-resistant Enterobacteriaceae (CP-CRE) are highly drug-resistant Gram-negative bacteria. They include New Delhi metallo-ß-lactamase (NDM)-producing carbapenemase (50.4% of all species in Ontario). Antibiotic challenges for resistant bacteria in neonates pose challenges of unknown dosing and side effects. We report two antenatally diagnosed CP-CRE colonization scenarios with the NDM 1 gene. The case involves extreme preterm twins who had worsening respiratory distress at birth requiring ventilator support, with the first twin also having cardiovascular instability. They were screened for CP-CRE, and a polymyxin antibiotic commenced. In the delivery room, neonatal intensive care unit (NICU) and the follow-up clinic, in collaboration with the interdisciplinary group, contact precautions and isolation procedures were instituted. None of the infants exhibited infection with CP-CRE. Consolidating knowledge with regard to CP-CRE and modifying human behavior associated with its spread can mitigate potential negative consequences. This relates to now and later, when travel and prolific human to human contact resumes, from endemic countries, after the current COVID-19 pandemic. Standardized efforts to curb the acquisition of this infection would be judicious given the challenges of treatment and continued emerging antibiotic resistance. Simple infection control measures involving contact precautions, staff education and parental cohorting can be useful and cost-effective in preventing transmission. Attention to NICU specific measures, including screening of at-risk mothers (invitro fertilization conception) and their probands, careful handling of breastmilk, judicious antibiotic choice and duration of treatment, is warranted. What does this study add? CP-CRE is a nosocomial infection with increasing incidence globally, and a serious threat to public health, making it likely that these cases will present with greater frequency to the NICU team. Only a few similar cases have been reported in the neonatal literature. Current published guidelines provide a framework for general hospital management. Still, they are not specific to the NICU experience and the need to manage the parents’ exposure and the infants. This article provides a holistic framework for managing confirmed or suspected cases of CP-CRE from the antenatal care through the NICU and into the follow-up clinic targeted at preventing or containing the spread of CP-CRE.

Newborn Screening for Cystic Fibrosis

PEDIATRICS ◽  
1991 ◽  
Vol 87 (6) ◽  
pp. 954-955
Author(s):  
IAN C. T. LYON ◽  
DIANNE R. WEBSTER
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Elevated Level ◽  
Meconium Ileus ◽  
Screening Tests ◽  
Initial Screening ◽  
False Negatives ◽  
Immunoreactive Trypsinogen

To the Editor.— The report on newborn screening for cystic fibrosis1 illustrates the need for continued evaluation of such programs. The authors state that the identification of cases of cystic fibrosis (CF) by an elevated level of immunoreactive trypsinogen (IRT) in second (follow-up) samples from infants with positive initial screening tests could result in false negatives in 27% of cases of cystic fibrosis without meconium ileus (MI). We have screened 401 122 infants using the method originally reported.2

Abstract 3622: End of Trial Period for Randomized Controlled Cardiology Trials: Is patient safety monitored and protected?

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Mohammad I Zia ◽  
Ronald Heslegrave ◽  
Gary E Newton
Keyword(s):  
Study Drug ◽  
Ethical Review ◽  
Trial Participation ◽  
List Type ◽  
Negative Consequences ◽  
Trial Period ◽  
Study Drug Administration ◽  
Consent Forms ◽  
Post Trial

Background: The post trial period is the period after the end of study drug administration. The Declaration of Helsinki (DOH) states that “at the conclusion of the study, every patient entered into the study should be assured of access to the best proven prophylactic, diagnostic and therapeutic methods identified by the study.” It further adds that “post trial access arrangements or other care must be described in the study protocol so the ethical review committee may consider such arrangements during its review.” Therefore our objectives were: to determine whether research trial protocols systematically consider post trial period issues including planned follow-up and patient surveillance in the post trial period; and to assess if consent forms addressed end of trial issues. Methods: We searched the research ethics board (REB) databases at 2 academic institutions in Toronto from 1995 to 2006 to identify approved randomized clinical trials of chronic medical therapies for cardiac conditions. Results: Fourty-two studies were identified including 18 heart failure and 15 coronary artery disease trials. Thirty-eight of these trials were industry funded. Almost all trials (n=37) ended study drug abruptly at the last clinic visit, while only 4 studies offered a clinical visit post trial termination, and an additional 3 reported a telephone contact after trial completion. Only 5 trials submitted consent forms to the REB with a discussion of the post trial period. After REB review, no additional consent forms addressed the post trial period. When comparing the time period before and after the updated version of the DOH in 2000, there was a trend towards a decline in addressing post trial care (p=0.08). Conclusion: The majority of cardiac trials end study drug abruptly with unknown and potentially negative consequences, and most patients have no systematic post trial follow up from trial investigators. Study patients are also not made aware of the post trial period, as the majority of study consent forms do not discuss post trial care. Therefore, an important aspect of clinical trial design, the post trial period, could be improved by systematic follow-up described in the protocol, and full discussion of this aspect of trial participation in the consent form.

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