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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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210 hot topic(s) found with the query "Newborn screening"

23 and Baby- We now have the ability to screen for thousands of genetic diseases in newborns. That may not always be the healthy thing to do.
T Lewis, Nature, December 4, 2019 (Posted: Dec-05-2019 7AM)

Regardless of concerns, newborn genetic testing is already here, and it is likely to become only more common. But is the technology sophisticated enough to be truly useful for most babies? And are families—and society—ready for that information?


Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438 (Posted: Dec-04-2019 10AM)


Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels Cynthia S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov (Posted: Dec-02-2019 8AM)

Phenotype-based patient selection is effective at identifying critically ill neonates with a high likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, leading to faster and more accurate diagnoses, reducing unnecessary testing and procedures and informing medical care.


Public Health Perspectives on Ensuring Life Long Benefits of Newborn Screening
MJ Khoury, CDC Blog, November 18, 2019 Brand (Posted: Nov-20-2019 9AM)

there is a special obligation to the children identified through newborn screening because we have decided, as public policy, that early identification is crucial. The fundamental question is how to develop systems to ensure that the mandate of early screening and detection for all leads to meaningful and equitable improvements in outcomes through coordinated care


Genome Sequencing in Newborns Raises Ethical Issues
NY Times, November 2019 (Posted: Nov-19-2019 8AM)


Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq
LF Ross et al, Pediatrics, November 2019 (Posted: Nov-19-2019 8AM)

There is a consensus within the pediatric, genetics, and ethics communities, in the Unites States and globally, that children should not be tested for adult-onset-only conditions. The arguments to support this position include: the information is not clinically relevant to the child, and it preserves the child’s autonomy to decide as an adult.


Fulfilling the Promise - Ensuring the Success of Newborn Screening throughout Life
CDC, November 2019 Brand (Posted: Nov-13-2019 8AM)

Each year, more than 13,000 newborn babies are identified with conditions such as cystic fibrosis, sickle cell disease, congenital heart defects, and hearing loss through a public health program called newborn screening. Without specialized care and treatment, these babies would face long-term disability, or even death.


Will genome testing of healthy babies save lives?
E Mahase, BMJ, November 11, 2019 (Posted: Nov-11-2019 10AM)

Aside from the ethical and data concerns about testing healthy babies’ genomes, the technology doesn’t seem to be ready for the NHS and could lead to more harm than good.


All children to receive whole genome sequencing at birth
The Telegraph, November 7, 2019 (Posted: Nov-08-2019 9AM)


Ensuring the Life-Span Benefits of Newborn Screening.
Kemper Alex R et al. Pediatrics 2019 Nov (Posted: Nov-08-2019 9AM)

We feel there is a special obligation to the children identified through newborn screening because we have decided, as public policy, that early identification is crucial. The fundamental question is how to develop systems to ensure that early screening and detection for all leads to meaningful and equitable improvements in outcomes.


Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.
Castellani Carlo et al. Seminars in respiratory and critical care medicine 2019 Nov (Posted: Nov-06-2019 8AM)

The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the standard of modern care. NBS programs can identify CF prior to clinical presentation, but a scrupulous system must be in place to ensure all steps in the program are performing


Strengthening Public Health Laboratories: Newborn Screening and Genetics – Hemoglobinopathies Project
CDC, 2019 Brand (Posted: Sep-14-2019 9AM)

In 2013, the Association of Public Health Laboratories’ and the CDC began working together on the Newborn Screening and Genetics – Hemoglobinopathies Project to help prevent and lower complications related to hemoglobinopathies, such as sickle cell disease and thalassemia.


Therapeutic advances in SMA.
Ludolph Albert C et al. Current opinion in neurology 2019 Oct (5) 777-781 (Posted: Aug-30-2019 7AM)

Therapeutic advances in 5q-associated SMA have been convincing in the previous years and change the field. This includes newborn screening, changing phenotypes in the treated children, challenges for drug administration in adolescents and adults and the comparison of drug effects. Long-term studies are required.


We must now put in place an updated, comprehensive newborn screening program for deaf and hard-of-hearing infants.
Howell R Rodney et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug (Posted: Aug-20-2019 9AM)


The Promises And Pitfalls Of Gene Sequencing For Newborns
R Harris, Morning edition, NPR, July 8, 2019 (Posted: Jul-08-2019 8AM)

Scientists have found that, so far, a complete genetic readout would be a poor substitute for the traditional blood test that babies get at birth to screen for diseases. Even when genetic testing provides useful information, it also can raise unsettling questions. One of the big concerns about running gene scans on newborns is how families will receive and make sense of the results.


Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
Baker Mei et al. JAMA neurology 2019 May (Posted: May-22-2019 8AM)


What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening
SG Nicholls et al, Public Health Ethics, May 4, 2019 (Posted: May-04-2019 7PM)


Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
Bick David et al. Journal of medical genetics 2019 Apr (Posted: May-01-2019 9AM)


Cost-effectiveness of newborn screening for severe combined immunodeficiency.
Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729 (Posted: May-01-2019 8AM)


DNA testing could save young lives through early intervention
Harvard Gazette, March 26, 2019 (Posted: Mar-31-2019 1PM)


Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.
Wang Qiuju et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar (Posted: Mar-21-2019 8AM)


Governor Cuomo Announces Initial Success of Life-Saving Newborn Screening Expansion
New York State, March 18, 2019 (Posted: Mar-19-2019 11AM)


Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready?
Phornphutkul Chanika et al. The Journal of pediatrics 2019 Feb (Posted: Mar-06-2019 10AM)


'I haven’t stopped crying since the vote.' State adds SMA to its newborn screening panel
NS Miller, Orlando Sentinel, February 15, 2019 (Posted: Feb-17-2019 1PM)


Let’s not get too excited about genome sequencing of healthy newborns. Here’s why!
Grosse SD et al, CDC Blog Post, February 15, 2019 (Posted: Feb-16-2019 0PM)


Actions in Support of Newborn Screening for Critical Congenital Heart Disease — United States, 2011–2018
CDC MMWR, February 7, 2019 Brand (Posted: Feb-07-2019 2PM)


How genetic counselors and ultra-rapid testing help parents search for answers they dread
K Aubusson, Sydney Morning Hearld, January 31, 2019 (Posted: Jan-31-2019 9AM)


Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017
G Amatuni et al, Pediatrics, January 25, 2019 (Posted: Jan-26-2019 0PM)


Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.
Sharp Seth A et al. Diabetes care 2019 Jan (Posted: Jan-19-2019 7AM)


A Chat about Babyseq
AJHG, January 17, 2019 (Posted: Jan-18-2019 10AM)


Baby sequencing steps
L Koch, Nature Reviews Genetics, January 16, 2019 (Posted: Jan-16-2019 9AM)


The Future of Newborn Screening: Why and How Partnerships Will Be Needed for Success.
Bailey Donald B et al. North Carolina medical journal 80(1) 28-31 (Posted: Jan-15-2019 10AM)


The Role of the Genetic Counselor in Newborn Screening.
Marcus Gail et al. North Carolina medical journal 80(1) 39-40 (Posted: Jan-15-2019 10AM)


Newborn Screening Policy Decisions: Adding Conditions.
Shone Scott M et al. North Carolina medical journal 80(1) 42-44 (Posted: Jan-15-2019 10AM)


What is Newborn Screening?
Powell Cynthia M et al. North Carolina medical journal 80(1) 32-36 (Posted: Jan-15-2019 10AM)


Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Navarrete Rosa et al. European journal of human genetics : EJHG 2019 Jan (Posted: Jan-13-2019 10AM)


Congrats on the new baby. Would you like a DNA screening test?
By Susan Scutti, CNN, January 8, 2019 (Posted: Jan-09-2019 0PM)


Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.
Pereira Stacey et al. Pediatrics 2019 Jan 143(Suppl 1) S6-S13 (Posted: Jan-09-2019 10AM)


Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns.
Lantos John D et al. Pediatrics 2019 Jan 143(Suppl 1) S1-S5 (Posted: Jan-09-2019 10AM)


Early Identification of Fragile X Syndrome through Expanded Newborn Screening.
Okoniewski Katherine C et al. Brain sciences 2019 Jan 9(1) (Posted: Jan-09-2019 9AM)


Genetic screening for newborns yields some answers, more questions
M Fox et al, NBC News, January 4, 2019 (Posted: Jan-05-2019 9AM)


Do you really want to know what's in your baby's genome?
K Eschner, Popular Science, January 4, 2019 (Posted: Jan-05-2019 9AM)


Baby DNA tests raise as many questions as answers
CY Johnson, Washington Post, January 3, 2019 (Posted: Jan-04-2019 11AM)


Babies’ Genomes Identify Risks Overlooked by Newborn Screens
A Olena, The Scientist, January 3, 2019 (Posted: Jan-04-2019 11AM)


Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
O Ceyhan-Birsoy et al, AJHG, January 3, 2019 (Posted: Jan-04-2019 8AM)


White Paper: Pathways to Progress in Newborn Screening for Sickle Cell Disease in Sub-Saharan Africa.
Hsu Lewis et al. Journal of tropical diseases & public health 2018 6(2) 260 (Posted: Dec-12-2018 10AM)


Secondary research uses of residual newborn screening dried bloodspots: a scoping review.
Rothwell Erin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec (Posted: Dec-12-2018 9AM)


Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Dorsey Morna J et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 1-11 (Posted: Nov-28-2018 8AM)


Foundation of the Newborn Screening Translational Research Network and its tools for research.
Lloyd-Puryear Michele et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov (Posted: Nov-07-2018 9AM)


Putting genome-wide sequencing in neonates into perspective
E van der Sluijs et al, Genetics in Medicine, October 4, 2018 (Posted: Oct-05-2018 6AM)


Clinical outcomes in U.S. infants with cystic fibrosis from 2001 to 2012.
Hoch Heather et al. Pediatric pulmonology 2018 Sep (Posted: Oct-03-2018 8AM)


Commercial Interests, the Technological Imperative, and Advocates: Three Forces Driving Genomic Sequencing in Newborns.
Pereira Stacey et al. The Hastings Center report 2018 Jul 48 Suppl 2S43-S44 (Posted: Aug-29-2018 9AM)


Families' Experiences with Newborn Screening: A Critical Source of Evidence.
Grob Rachel et al. The Hastings Center report 2018 Jul 48 Suppl 2S29-S31 (Posted: Aug-29-2018 9AM)


What Genomic Sequencing Can Offer Universal Newborn Screening Programs.
Powell Cynthia M et al. The Hastings Center report 2018 Jul 48 Suppl 2S18-S19 (Posted: Aug-29-2018 9AM)


The Ethics of Sequencing Newborns: Reflections and Recommendations
Hastings Center Report, August 2018 (Posted: Aug-20-2018 8AM)


The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
MP Wassertein et al, Genetics in Medicine, August 10, 2018 (Posted: Aug-10-2018 0PM)


Next-generation sequencing as a second-tier diagnostic test for newborn screening.
Luo Xiaomei et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Jul (Posted: Jul-25-2018 8AM)


V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.
Fernández-Lorenzo Ana E et al. Medicine 2018 Jul 97(28) e11397 (Posted: Jul-18-2018 9AM)


SMA Test Added to Newborn Screening Recommendations
Frontline Genomics, July 6, 2018 (Posted: Jul-07-2018 6PM)


Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy
AB Moser et al, JAMA Neurology, June 25, 2018 (Posted: Jun-29-2018 2PM)


From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics.
Howell R Rodney et al. Annual review of genomics and human genetics 2018 Mar (Posted: Jun-14-2018 9AM)


SCID Newborn Screening Campaign
IDF, 2018 (Posted: Jun-05-2018 1PM)


Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis.
Taylor-Phillips Sian et al. BMJ (Clinical research ed.) 2018 May 361k1612 (Posted: May-16-2018 9AM)


Delays in adding new newborn screening tests harm babies, families
R Moy et al, STatNews, Apr 30, 2018 (Posted: Apr-30-2018 10AM)


Decoding your baby's DNA: It can be done. But should it be?
S Karlamangla, LA Times, Apr 21, 2018 (Posted: Apr-23-2018 9AM)


Too much information - should we sequence babies?
T Brigden, PHG Foundation, Mar 29, 2018 (Posted: Apr-04-2018 9AM)


Strategies for newborn screening for cystic fibrosis: A systematic review of health economic evaluations.
Schmidt Masja et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Mar (Posted: Mar-27-2018 1PM)


Nutritional Status the First Two Years of Life in Cystic Fibrosis Diagnosed by Newborn Screening.
Munck Anne et al. Journal of pediatric gastroenterology and nutrition 2018 Mar (Posted: Mar-21-2018 4PM)


Newborn Screening: History, Current Status, and Future Directions.
El-Hattab Ayman W et al. Pediatric clinics of North America 2018 Apr 65(2) 389-405 (Posted: Mar-14-2018 10AM)


Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Eisengart Julie B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar (Posted: Mar-13-2018 1PM)


ECFS best practice guidelines: the 2018 revision.
Castellani Carlo et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Mar (Posted: Mar-07-2018 9AM)


Would you test your newborn's DNA for 193 genetic diseases?
C Abate, Health Line, Feb 24, 2018 (Posted: Feb-27-2018 9AM)


Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era.
Wiencek Joesph R et al. Clinical chemistry 2018 Feb (Posted: Feb-14-2018 11AM)


Parents Can Now Perform Newborn Screening Test at Home
Front Line Genetics, Feb 7, 2018 (Posted: Feb-07-2018 11AM)


Would You Have Your Newborn Genetically Tested?
The Doctor's Staff, Jan 23, 2018 (Posted: Jan-23-2018 0PM)


Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples.
AlSaif Saif et al. BMC pediatrics 2017 Jul (1) 159 (Posted: Jan-05-2018 7AM)


Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen.
Fogel Benjamin N et al. The Journal of pediatrics 2017 Dec (Posted: Jan-03-2018 10AM)


Newborn screening for severe combined immunodeficiency: a primer for clinicians.
Biggs Catherine M et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2017 Dec (50) E1551-E1557 (Posted: Dec-22-2017 10AM)


Making Sense of Newborn Screening Cut-off Values
APHL Blog Post, 2017 (Posted: Dec-09-2017 11AM)


The Success of State Newborn Screening Policies for Critical Congenital Heart Disease
AR Kemper, JAMA, Dec 5, 2017 (Posted: Dec-05-2017 4PM)


Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths
R Abouk et al., JAMA, Dec 5, 2017 (Posted: Dec-05-2017 4PM)


A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)
HB Gaspar, Int. J. Neonatal Screen. 2017, 3(4), 29; (Posted: Nov-12-2017 0PM)


Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Borghesi Alessandro et al. Italian journal of pediatrics 2017 Nov 43(1) 100 (Posted: Nov-08-2017 9AM)


Evaluation of newborn sickle cell screening programme in England: 2010-2016.
Streetly Allison et al. Archives of disease in childhood 2017 Nov (Posted: Nov-08-2017 9AM)


Next generation sequencing as a follow-up test in an expanded newborn screening programme.
Andraz Smon et al. Clinical biochemistry 2017 Oct (Posted: Nov-08-2017 9AM)


DNA scan for infants raise questions of privacy and discrimination
CBS News, Oct 24, 2017 (Posted: Oct-25-2017 8AM)


New controversial screening tests newborns for 1,800 conditions
CBS Newswire, Oct 24, 2017 (Posted: Oct-25-2017 8AM)


A pilot study of population-based newborn screening for spinal muscular atrophy in New York state
JN Krazewski et al, Genetics in Medicine, October 12, 2017 (Posted: Oct-13-2017 1PM)


CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
MMWR Weekly / August 25, 2017 / 66(33);888?890 Brand (Posted: Aug-24-2017 1PM)


Assessing the Fragile X Syndrome Newborn Screening Landscape.
Riley Catharine et al. Pediatrics 2017 Jun 139(Suppl 3) S207-S215 (Posted: Aug-23-2017 9AM)


Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Bailey Donald B et al. Pediatrics 2017 Jun 139(Suppl 3) S216-S225 (Posted: Aug-23-2017 9AM)


Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
SD Grosse, CDC Blog Post, 2016 Brand (Posted: Aug-06-2017 5AM)


Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future
J King et al, International Journal of Neonatal Screening 2017, 3(3), 19 (Posted: Aug-06-2017 5AM)


Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.
Oshima Yuki et al. Journal of human genetics 2017 Jul (Posted: Aug-02-2017 8AM)


Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.
Almannai Mohammed et al. Current opinion in pediatrics 2016 Dec (6) 694-699 (Posted: Jul-27-2017 10AM)


Baby Genome Sequencing for Sale in China
A Regalado, MIT Review, June, 2017 (Posted: Jul-17-2017 1PM)


Neonatal screening improves sickle cell disease clinical outcome in Belgium.
Lê Phu-Quoc et al. Journal of medical screening 2017 Jan 969141317701166 (Posted: Jul-12-2017 11AM)


Expanded Newborn Screening: Information and Resources for the Family Physician.
Weismiller David Glenn et al. American family physician 2017 Jun 95(11) 703-709 (Posted: Jul-12-2017 11AM)


Baby genome screening—paving the way to genetic discrimination?
MG Seidel, BMJ Opinion July 5, 2017 (Posted: Jul-10-2017 7PM)


Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Pavey Ashleigh R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun (Posted: Jun-21-2017 8AM)


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Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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