Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content


Hot Topics of the Day|PHGKB
Search PHGKB:

Archive

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.

Sign up MyPHGKB to receive the daily hot topic email alert.

Search Archive:
Archived Hot Topics of the Day By Date
201 hot topic(s) found with the query "Cystic fibrosis "

Cystic Fibrosis.
Hartmut Grasemann et al. N Engl J Med 2023 11 (18) 1693-1707 (Posted: Nov 02, 2023 9AM)

From the paper: "Care for patients with cystic fibrosis has undergone transformative changes over the past decade and serves as an example of how an understanding of the functional consequences of a genetic disease can lead to improved outcomes in affected persons. Substantial progress had been made through the implementation of therapies addressing key downstream manifestations of the disease such as mucus accumulation in the airways and persistent airway infections. In addition, the introduction of small-molecule drugs that address the underlying molecular defects — cystic fibrosis transmembrane conductance regulator (CFTR) modulators — has resulted in unprecedented improvements in the health of many persons with cystic fibrosis."

The past 10 years of cystic fibrosis treatment: the road to cure.
Claudio Castaños et al. Lancet Respir Med 2023 10 (10) 864-865 (Posted: Oct 23, 2023 7PM)

From the paper: " Cystic fibrosis is a genetic disease associated with high rates of premature death. There have been many advances in clinical care for cystic fibrosis during the past 50 years, such as the widespread implementation of newborn screening for early diagnosis, enhanced mucociliary clearance techniques, and improvements in nutrition (including adjusted pancreatic enzyme replacement therapy and a high-energy, high-fat diet). However, the life expectancy of patients with cystic fibrosis is still substantially shorter than that of the general population."

Screening during IVF for inherited diseases can greatly reduce costs of care
L Flynn, MedicalXpress, July 2023 (Posted: Jul 10, 2023 7AM)

For prospective parents who are carriers of many inherited diseases, using in vitro fertilization along with genetic testing would significantly lower health care expenditures, according to a new study. Preimplantation genetic diagnostic testing during IVF, or PGD-IVF, is now being used to screen for single-gene defect conditions such as cystic fibrosis, sickle cell disease and Tay-Sachs disease, along with nearly 400 others.

Disease screening for newborns varies by state. For some, that means diagnoses come too late.
A Bendix, NBC News, June 16, 2023 (Posted: Jun 23, 2023 9AM)

Many parents have experienced the horror of learning that their children have rare diseases for which earlier intervention might have made a difference, say screening babies for more conditions could save lives. The Department of Health and Human Services recommends that newborns get screened for 37 disorders, including cystic fibrosis and Pompe disease, as well as 26 other related disorders. Krabbe disease isn’t on the list.

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
JL Deignan et al, Genetics in Medicine, June 13, 2023 (Posted: Jun 13, 2023 9AM)

The new CFTR variant set represents an updated minimum recommended variant set for CF carrier screening, and this new set now supersedes the previous set of 23 CFTR variants recommended by the ACMG. These revised recommendations apply only to carrier screening. They do not apply to CFTR variant testing for diagnosis or newborn screening. All other aspects of the updated 2020 ACMG CFTR technical standards still apply.

Cystic Fibrosis: A Review.
Thida Ong et al. JAMA 2023 6 (21) 1859-1871 (Posted: Jun 08, 2023 4PM)

Cystic fibrosis, a genetic disorder defined by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, affects more than 30?000 individuals in the US and approximately 89?000 worldwide. Absent or decreased function of the CFTR protein is associated with multiorgan dysfunction and shortened life expectancy. CFTR is an anion channel in the apical membrane of epithelial cells. Loss of function leads to obstructed exocrine glands. Of people with cystic fibrosis in the US, approximately 85.5% have the gene variant F508del.

What It’s Like to Learn You’re Going to Live Longer Than You Expected
DJ Lamas, NY Times, February 6, 2023 (Posted: Feb 07, 2023 6AM)

Molly was born in 1988 with cystic fibrosis, a genetic disease that leads to an early death from lung failure. But Ms. Pam is now 34. And thanks to a new drug that has revolutionized the treatment of this disease, she will likely live to celebrate her ??40th and even 50th birthdays. Her life expectancy has shifted drastically within her lifetime. It is a remarkable and complicated experience. And as science races forward with gene therapy and targeted cancer treatments that promise to turn terminal disease into chronic illness, it is also a lesson in what might be ahead.

Immunogenicity, Safety and Effectiveness of COVID-19 Pfizer-BioNTech (BNT162b2) mRNA Vaccination in Immunocompromised Adolescents and Young Adults: A systematic Review and Meta-Analyses
P Katoto et al, MEDRXIV, January 20, 2023 (Posted: Jan 22, 2023 8AM)

The overall estimated proportion of combined local and systemic reactions after the first BNT162b2 vaccination was 30%[95% CI: 17-42%] and slightly rose to 32% [95% CI: 19-44%] after the second dose. Rheumatic illnesses had the highest rate of AEFI (40%[95% CI: 16-65%]), while cystic fibrosis had the lowest (27%[95% CI: 17%-38%]). Hospitalizations for AEFIs were rare.

SARS-CoV-2 viral entry and replication is impaired in Cystic Fibrosis airways due to ACE2 downregulation.
Bezzerri Valentino et al. Nature communications 2023 1 (1) 132 (Posted: Jan 15, 2023 3PM)

As an inherited disorder characterized by severe pulmonary disease, cystic fibrosis could be considered a comorbidity for coronavirus disease 2019. Instead, current clinical evidence seems to be heading in the opposite direction. To clarify whether host factors expressed by the Cystic Fibrosis epithelia may influence coronavirus disease 2019 progression, here we describe the expression of SARS-CoV-2 receptors in primary airway epithelial cells. We show that angiotensin converting enzyme 2 (ACE2) expression and localization are regulated by Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel.

Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions.
Hoskovec Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 12 (Posted: Dec 02, 2022 6AM)

The purpose of this study was to evaluate the clinical performance of carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy with reflex single-gene noninvasive prenatal screening (sgNIPS), which does not require paternal carrier screening. An unselected sample of 9151 pregnant individuals from the general US pregnant population was screened for carrier status. Overall, 98.7% of pregnant individuals received an informative result (no-call rate = 1.3%), either a negative carrier report or, if identified as heterozygous for a pathogenic variant, a reflex sgNIPS report.

Simple Urine Test Could Improve Cystic Fibrosis Treatment
D Coffey, Medscape, October 31, 2022 (Posted: Nov 02, 2022 6AM)

An easy-to-administer electrolyte test could offer new insight into response to treatment and disease progression for patients with cystic fibrosis. In a new study, researchers found that urine bicarbonate excretion is a potential marker for the function of the cystic fibrosis transmembrane conductance regulator (CFTR), an ion channel that, when defective, causes mucous obstruction, infection, chronic inflammation, and fibrosis.

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
M Kharrazi et al, IJNS, October 27, 2022 (Posted: Oct 31, 2022 9AM)

This survey aimed to find factors associated with missed CF cases due to IRT levels below program cutoffs. Twenty-nine states responded to a U.S-wide survey and 13 supplied program-related data for low IRT false screen negative cases (CFFN) and CF true screen positive cases (CFTP) for analysis. Factors associated with “low” CFFN subgroup were older age at specimen collection, Saturday birth, hotter season of newborn dried blood spot collection, maximum = 3 days laboratories could be closed, preterm birth, and formula feeding newborns. Lowering IRT cutoffs may reduce “high” IRT CFFNs. Addressing hospital and laboratory factors may reduce “low” IRT CFFNs.

CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis.
Vaidyanathan Sriram et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 7 (Posted: Jul 21, 2022 7AM)

Cystic fibrosis (CF) is not well-characterized in Asians, potentially resulting in delayed diagnosis and poor prognosis. We characterized CF in Asian subgroups to address these disparities. The prevalence of CF was 1 in 74,982 people (Canada) to 1 in 13,340 people (United Kingdom) for South Asians and 1 in 256,541 (Canada) to 1 in 52,563 (United Kingdom) for other Asians, suggesting 26,000 to 146,000 patients with CF in South Asia. p.(F508del) variant was markedly less frequent in Asians than in non-Hispanic Whites. Splicing and nonsense variants occurred at high allelic frequencies in Asians, resulting in 41% to 49% of South Asians and 21% to 39% of other Asians being ineligible for CFTR modulator therapies. Hologic/EU2v1 panels failed to identify 37% to 47% of South Asian and 23% to 46% of other Asian patients with CF.

PBPK-led guidance for cystic fibrosis patients taking elexacaftor-tezacaftor-ivacaftor with nirmatrelvir-ritonavir for the treatment of COVID-19
E Hong et al, MEDRXIV, January 22, 2022 (Posted: Jan 22, 2022 1PM)

What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
FK Boardman et al, EJHG, September 27, 2021 (Posted: Sep 28, 2021 6AM)

This study explores the concept of seriousness through the perspectives of people with a range of ‘clinically serious’ conditions (fragile X conditions, spinal muscular atrophy, cystic fibrosis, hemophilia, thalassemia). Attitudes towards suffering, quality of life (QoL) and selective pregnancy termination were elucidated from 45 in-depth qualitative interviews and 469 postal/online surveys. The majority of participants reported good health/wellbeing, and the capacity for good QoL, despite experiencing suffering with their condition.

Health Equity and Genetic Disorders
CDC, August 2021 Brand (Posted: Sep 01, 2021 7AM)

Public health efforts to achieve health equity need to include people with genetic disorders. Thousands of inherited genetic disorders affect millions of people in the United States. Genetic disorders include both single-gene disorders, such as cystic fibrosis and sickle cell disease, and conditions that make people more likely to develop common chronic diseases, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.

Cascade health service use in family members following genetic testing in children: a scoping literature review
A Cernat et al, EJHG, August 26, 2021 (Posted: Aug 27, 2021 7AM)

Uptake of cascade testing varied across diseases, from 37% for cystic fibrosis, 39% to 65% for hypertrophic cardiomyopathy, and 90% for rare monogenic conditions. Two studies evaluated costs. It was concluded that cascade testing in the child-to-parent direction has been reported in a variety of diseases, and that understanding the scope of cascade testing will aid in the design and conduct of HTA of emerging genetic technologies to better inform funding and policy decisions.

Triple Therapy for Cystic Fibrosis Phe508del–Gating and –Residual Function Genotypes
PJ Barry et al, NEJM, August 25, 2021 (Posted: Aug 26, 2021 6AM)

We conducted a phase 3, double-blind, randomized, active-controlled trial involving patients 12 years of age or older with cystic fibrosis and Phe508del–gating or Phe508del–residual function genotypes. We found that Elexacaftor–tezacaftor–ivacaftor was efficacious and safe in patients with Phe508del–gating or Phe508del–residual function genotypes and conferred additional benefit relative to previous CFTR modulators.

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Gregg Anthony R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 7 (Posted: Jul 22, 2021 7AM)

Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously.

Cystic Fibrosis
M Shteinberg et al, The Lancet, June 2021 (Posted: Jun 06, 2021 7AM)

Cystic fibrosis is a monogenic disease considered to affect at least 100?000 people worldwide. We present the current understanding of CFTR mutations, protein function, and disease pathophysiology, consider strengths and limitations of current management strategies, and look to the future of multidisciplinary care for those with cystic fibrosis.

Tackling the Misconception That Cystic Fibrosis Is a “White People’s Disease”
R Rubin, JAMA, May 26, 2021 (Posted: May 27, 2021 7AM)

The notion that members of racial or ethnic minority groups couldn’t possibly have CF has regularly resulted in delayed diagnoses and treatment. That’s one reason why, according to the Cystic Fibrosis Foundation (CFF), Black and Hispanic people with CF are nearly twice as likely to die before their 18th birthday as White people with CF.

The impact of COVID-19 upon the delivery of exercise services within cystic fibrosis clinics in the United Kingdom
OW Tomlinson et al, MEDRXIV, April 16, 2021 (Posted: Apr 16, 2021 7AM)

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis.
Bergougnoux Anne et al. International journal of neonatal screening 2020 Mar 6(1) (Posted: Feb 12, 2021 11AM)

CFTR -extended genetic analysis (EGA) by sequencing its coding regions has become affordable and has already been included as part of a limited number of core NBS programs, to the benefit of admixed populations. Based on results analysis of existing programs, the values and challenges of EGA are reviewed in the perspective of its implementation on a larger scale.

Host genetic effects in pneumonia.
Chen Hung-Hsin et al. American journal of human genetics 2020 Dec (Posted: Jan 08, 2021 9AM)

We performed GWASs of pneumonia susceptibility and severity. Two regions of large effect were identified: the CFTR locus in EA and HBB in AA.(Mutations in these genes cause cystic fibrosis (CF) and sickle cell disease (SCD), respectively. After removing individuals diagnosed with CF and SCD, we uncovered an additional association in R3HCC1L. This variant was also validated in GWASs of COVID-19 hospitalization and lung function.

Pseudomonas aeruginosa adaptation and evolution in patients with cystic fibrosis.
Rossi Elio et al. Nature reviews. Microbiology 2020 Nov (Posted: Nov 24, 2020 8AM)

Intense genome sequencing of Pseudomonas aeruginosa isolates from cystic fibrosis (CF) airways has shown inefficient eradication of the infecting bacteria, as well as previously undocumented patient-to-patient transmission of adapted clones. However, genome sequencing has limited potential as a predictor of chronic infection and of the adaptive state during infection, and thus there is increasing interest in linking phenotypic traits to the genome sequences.

How precision medicine paved the way to the first cystic fibrosis drug- Heartbreak, sacrifice, genetics and venture philanthropy — this book has it all.
H Ledford, Nature News, October 26, 2020 (Posted: Oct 26, 2020 9AM)

Children with salty skin — a telltale sign of the genetic disease cystic fibrosis, which ravages the lungs and digestive system — can now live well into adulthood, thanks to the first drugs designed to treat people with a specific genetic mutation. Getting to this point took decades of sacrifice, disappointment and dogged research.

Resolvin D1 and D2 reduce SARS-Cov-2-induced inflammation in cystic fibrosis macrophages
A Rechiutti et al, BIORXIV, August 28, 2020 (Posted: Aug 30, 2020 11AM)

Cystic fibrosis
Nature Outlook Special Supplement, July 29, 2020 (Posted: Aug 03, 2020 10AM)

New therapies are turning cystic fibrosis, an inherited disorder that causes a vicious cycle of mucus build-up, infection and inflammation, into a more manageable condition that people can survive into adulthood.

COVID-19 meets Cystic Fibrosis: for better or worse?
D Peckham et al, Genes and Immunity, July 2020 (Posted: Jul 21, 2020 7AM)

There are limited data on the response of CF patients to COVID-19, although preliminary information suggests that the course of disease may be milder than expected. Globally, from a population of about 100,000 patients, there have been over a hundred cases of COVID-19 infection in people with CF, with 90% exhibiting relatively few symptoms and complications.

Setting a new standard in cystic fibrosis newborn screening illustrates controversial issues as new data emerge
PM Farrell, EJHG, July 13, 2020 (Posted: Jul 13, 2020 8AM)

Cystic Fibrosis
CDC, June 2020 Brand (Posted: Jun 30, 2020 8AM)

Cystic fibrosis (CF) is a genetic disorder that causes problems with breathing and digestion. People with cystic fibrosis (CF) are among those who might be more likely to have severe illness from COVID-19. Learn more about steps you can take.

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis.
Zhong Xue et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr (Posted: Apr 17, 2020 9AM)

The sticky culprit: Platelets in cystic fibrosis
S Sengupta, Sci Trans Med, April 15, 2020 (Posted: Apr 17, 2020 9AM)

Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity
F Farook et al, JAMA Network Open, March 27, 2020 (Posted: Mar 28, 2020 8AM)

This cross-sectional study of research funding and outputs for cystic fibrosis and sickle cell disease found that expenditures were greater for cystic fibrosis compared with sickle cell disease. Significantly more research articles and drug approvals were found for cystic fibrosis compared with sickle cell disease.

For people with underlying health conditions, the coronavirus presents ‘all the ingredients’ for danger
A Joseph, Stat News, March 23, 2020 (Posted: Mar 23, 2020 8AM)

An infection from the coronavirus can be a formidable threat to anyone. But it is especially pernicious for people whose health is vulnerable, even in the best of conditions. Examples include those with primary immunodeficiency disorders, cystic fibrosis, BRCA mutations, and congenital heart defects.

Cystic Fibrosis Patient Asks for Increased Efforts Around Antibiotic Resistance
Pew Trust, January 28, 2020 (Posted: Feb 03, 2020 9AM)

I am living with cystic fibrosis, and many of us with the condition rely on antibiotics every day. In the CF world, antibiotic resistance is commonplace. It is one of the leading complications that contribute to patient death.

Hospitalization rates among patients with cystic fibrosis using pancreatic enzyme replacement therapy.
Trapnell Bruce C et al. Chronic respiratory disease 171479973119900612 (Posted: Jan 29, 2020 7AM)

We investigated the relationship between self-reported adherence to pancreatic enzyme replacement therapy (PERT), nutritional status, and all-cause hospitalization in cystic fibrosis (CF) patients with a record of PERT use.

Fecal dysbiosis in infants with cystic fibrosis is associated with early linear growth failure
HS Hayden et al, Nature Medicine, January 20, 2020 (Posted: Jan 21, 2020 9AM)

We identified an early, progressive fecal dysbiosis that distinguished infants with CF and low length from infants with CF and normal length. This dysbiosis included altered abundances of taxa that perform functions that are important for GI health, nutrient harvest and growth hormone signaling,

Should We Sequence the Genome of Every Newborn?
Scientific American Blog, December 2019 (Posted: Jan 04, 2020 2PM)

Thankfully, we already have a model for how to do this: newborn screening programs such as those run by state departments of public health in the U.S., which test a drop of blood taken from each baby’s heel for several dozen conditions, including cystic fibrosis and sickle cell anemia.

Persistence pays off in treatment for cystic fibrosis
The Washington Post, November 23, 2019 (Posted: Nov 25, 2019 8AM)

The achievement is the result of persistence by patient advocates and scientists, who never threw in the towel, even when the goal seemed impossible. A lot of bake sales went into supporting the quest, and that kind of support is priceless.

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.

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

Cystic fibrosis: triple therapy shows promising results
E Mahase, BMJ, November 4, 2019 (Posted: Nov 05, 2019 8AM)

The triple therapy Trikafta (elexacaftor, tezacaftor, and ivacaftor) has the potential to lead to “transformative improvements in the lives of people with cystic fibrosis,” two phase III trials indicate. The studies looked at the efficacy and safety of Trikafta in patients with one copy of Phe508del—the most common gene mutation for cystic fibrosis.

Realizing the Dream of Molecularly Targeted Therapies for Cystic Fibrosis.
Collins Francis S et al. The New England journal of medicine 2019 Oct (Posted: Nov 04, 2019 8AM)

The journey to gene-based therapies for cystic fibrosis began with enthusiasm over the prospect of gene therapy. But the challenges of using gene transfer to achieve long-lasting correction in the airway proved daunting.

FDA approves new breakthrough therapy for cystic fibrosis- Treatment approved for approximately 90% of patients with cystic fibrosis, many of whom had no approved therapeutic options
FDA News Release, October 2019 (Posted: Nov 03, 2019 8AM)

Studies Yield ‘Impressive’ Results in Fight Against Cystic Fibrosis
N Chokshi, NY Times, October 31, 2019 (Posted: Nov 03, 2019 8AM)

A pair of new studies report “impressive” benefits from a drug therapy for cystic fibrosis, a deadly and devastating disease that affects tens of thousands of people worldwide. These findings indicate that it may soon be possible to offer safe and effective molecularly targeted therapies to 90 percent of persons with cystic fibrosis.

Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial
HGM Heijerman et al, Lancet, October 31, 2019 (Posted: Nov 03, 2019 7AM)

Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele
PJ Middleton et al, NEJM, October 31, 2019 (Posted: Nov 03, 2019 7AM)

New Hope For Patients Living With Cystic Fibrosis After Scientists Unveil Therapy
NPR, November 1, 2019 (Posted: Nov 02, 2019 7AM)

NPR's Mary Louise Kelly talks with National Institutes of Health director Dr. Francis Collins about the new cystic fibrosis drug therapy that could benefit 90% of patients with the disease.

Dare to Dream: The Long Road to Targeted Therapies for Cystic Fibrosis
NIH Director's Blog, October 31, 2019 Brand (Posted: Nov 01, 2019 9AM)

Today, I’m overjoyed to say that this dream finally appears to have come true for about 90 percent of people with CF. Two international teams, including researchers report impressive results from phase 3 clinical trials of a triple drug therapy for individuals with CF and at least one copy of Phe508del, the most common CF-causing mutation.

The future of cystic fibrosis care: a global perspective.
Bell Scott C et al. The Lancet. Respiratory medicine 2019 Sep (Posted: Oct 16, 2019 6AM)

The Lancet Respiratory Medicine Commission on the future of cystic fibrosis care was established at a time of great change in the clinical care of people with the disease, with a growing population of adult patients, widespread genetic testing supporting the diagnosis of cystic fibrosis, and the development of therapies.

Scotland strikes deal to offer cystic fibrosis drugs
B Christie, BMJ, September 13, 2019 (Posted: Sep 13, 2019 10AM)

Creating genetic reports that are understood by nonspecialists: a case study.
Recchia Gabriel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Sep (Posted: Sep 12, 2019 7AM)

The study investigated the feasibility of creating reports for cystic fibrosis carrier testing through a rapid user-centered design process that built on a previously developed generic template. The authors evaluated the new reports’ communication efficacy and effects on comprehension against comparable reports used in current clinical practice.

Thirtieth Anniversary of Cystic Fibrosis Gene Discovery
Francis Collins, NIH Director's blog, August 2019 Brand (Posted: Sep 08, 2019 2PM)

In 1989, the gene that causes cystic fibrosis, was discovered by a collaborative research effort involving the University of Michigan, Ann Arbor, and colleagues at the Hospital for Sick Children, Toronto. This year marks the 30th anniversary of the discovery, which has yielded life-sustaining targeted therapies for many kids born with this rare disease.

Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records
JP Sugunarajav et al, NPJ Genomic Medicine, September 5, 2019 (Posted: Sep 06, 2019 7AM)

Despite EHR-based phenotyping limitations, the presence or absence of pathogenic CFTR variants has strong predictive value for CF diagnosis when EHR data is used as the sole phenotyping source.

Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review.
Kessels Sharon J M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug (Posted: Sep 01, 2019 7AM)

To determine effectiveness, this study conducted a systematic literature review whose protocol outlined search strategies across eight databases, study inclusion criteria, and prespecified literature screening, data extraction, and synthesis processes. The authors conducted a scoping search on ethical considerations

Vertex sinks on reports of deaths of patients taking cystic fibrosis drug
D Garde, Stat News, August 28, 2019 (Posted: Aug 30, 2019 7AM)

Making precision medicine personal for cystic fibrosis
C Manfredi et al, Science, July 19, 2019 (Posted: Jul 19, 2019 1PM)

On the basis of classifying CFTR mutant proteins, cystic fibrosis has been viewed as a model for personalized therapeutics. However, CFTR variants may have pleiotropic effects, which complicates assignment of specifically tailored drugs to discrete mechanisms In addition, the cost of new CFTR modulators constrains reimbursement and has delayed drug availability for certain patient groups

Cystic Fibrosis Patients Turn to Experimental Phage Therapy
A Ellin, NY Times, May 17, 2019 (Posted: May 18, 2019 0PM)

Sequencing as a first-line methodology for cystic fibrosis carrier screening
KA Beauchamp et al, Genetics in Medicine, April 30, 2019 (Posted: Apr 30, 2019 8AM)

Five Feet Apart
CF Foundation, March 2019 (Posted: Mar 17, 2019 4PM)

Scientists find new approach that shows promise for treating cystic fibrosis
NIH, March 13, 2019 Brand (Posted: Mar 14, 2019 10AM)

Health economic modelling in Cystic Fibrosis: A systematic review.
Mohindru Bishal et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2019 Feb (Posted: Feb 12, 2019 10AM)

Outrage as cystic fibrosis drug firm posts big profit
The Observer, February 10, 2019 (Posted: Feb 10, 2019 1PM)

‘We’re still waiting’: As cystic fibrosis drugs deliver new hope, not everyone is being swept up by scientific progress
A Joseph, Stat News, February 4, 2019 (Posted: Feb 04, 2019 8AM)

The increasing challenge of genetic counseling for cystic fibrosis.
Foil Kimberly E et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Dec (Posted: Dec 19, 2018 10AM)

New therapies pack a triple-drug punch to treat cystic fibrosis
A Cunningham, Science News, October 19, 2018 (Posted: Oct 21, 2018 2PM)

Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis.
Smith Daniel J et al. Gene 2018 Oct 12-17 (Posted: Oct 21, 2018 2PM)

VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles
D Keating et al, NEJM, October 18, 2018 (Posted: Oct 19, 2018 4PM)

Triple CFTR Modulator Therapy for Cystic Fibrosis
F Holguin, NEJM, October 18, 2018 (Posted: Oct 19, 2018 4PM)

Cystic fibrosis survival: the changing epidemiology.
Corriveau Sophie et al. Current opinion in pulmonary medicine 2018 Nov 24(6) 574-578 (Posted: Oct 10, 2018 7AM)

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)

Cost-Effectiveness and Budget Impact of Lumacaftor/Ivacaftor in the Treatment of Cystic Fibrosis.
Vadagam Pratyusha et al. Journal of managed care & specialty pharmacy 2018 Oct 24(10) 987-997 (Posted: Sep 26, 2018 10AM)

When should genomic testing be considered for cystic fibrosis?
Wysocki Kenneth et al. Journal of the American Association of Nurse Practitioners 2018 Sep 30(9) 478-479 (Posted: Sep 19, 2018 9AM)

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)

A Drug Costs $272,000 a Year. Not So Fast, Says New York State.
K Thomas, New York Times, June 19, 2018 (Posted: Jun 26, 2018 7PM)

Evaluating the Impact of Precision Medicine: How Ivacaftor Reduces Hospitalizations of Patients with Cystic Fibrosis
RF Green al, CDC Blog Post, May 8, 2018 Brand (Posted: May 08, 2018 5PM)

Precision Medicine In Action: The Impact Of Ivacaftor On Cystic Fibrosis–Related Hospitalizations
LB Feng et al, Health Affairs, May 2018 (Posted: May 08, 2018 8AM)

Disease-modifying genetic factors in cystic fibrosis.
Marson Fernando A L et al. Current opinion in pulmonary medicine 2018 May (3) 296-308 (Posted: May 04, 2018 11AM)

Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease.
O'Neal Wanda K et al. Annual review of genomics and human genetics 2018 Apr (Posted: May 04, 2018 11AM)

The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF.
Eckford Paul D W et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Apr (Posted: May 02, 2018 9AM)

Transition from paediatric to adult healthcare for young people with cystic fibrosis: Parents' information needs.
Coyne Imelda et al. Journal of child health care : for professionals working with children in the hospital and community 2018 Jan 1367493518768448 (Posted: Apr 10, 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)

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)

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)

Cystic Fibrosis and C. Diff : A Dangerous Combination
CDC Safe Healthcare Blog Post, 2017 Brand (Posted: Feb 07, 2018 0PM)

An update on new and emerging therapies for cystic fibrosis.
Hudock Kristin M et al. Expert opinion on emerging drugs 2017 Dec (4) 331-346 (Posted: Feb 07, 2018 0PM)

Translational research to enable personalized treatment of cystic fibrosis.
Hagemeijer Marne C et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2017 Dec (Posted: Feb 07, 2018 0PM)

Cystic Fibrosis: Lungs’ Bacterial Population Changes in the First Few Years of Life
Frontline Genetics, Feb 7, 2018 (Posted: Feb 07, 2018 11AM)

Personalized Medicine in CF: From Modulator Development to Therapy for Cystic Fibrosis Patients with Rare CFTR Mutations.
Harutyunyan Misak et al. American journal of physiology. Lung cellular and molecular physiology 2017 Dec (Posted: Jan 24, 2018 10AM)

Does distance to a cystic fibrosis center impact health outcomes?
Johnson Ben et al. Pediatric pulmonology 2018 Jan (Posted: Jan 24, 2018 10AM)

Cystic fibrosis: Discovery of a key molecule for improving treatments
Frontiers Blog, Dec 20, 2017 (Posted: Dec 20, 2017 9AM)

Treating Specific Variants Causing Cystic Fibrosis.
Cutting Garry R et al. JAMA 2017 Dec (21) 2130-2131 (Posted: Dec 12, 2017 11AM)

Health of people with cystic fibrosis shows positive trends in US and Canada
Check Orphan, Nov 22, 2017 (Posted: Nov 23, 2017 11AM)

CFTR Modulator Therapy for Cystic Fibrosis.
Grasemann Hartmut et al. The New England journal of medicine 2017 Nov (Posted: Nov 20, 2017 8AM)

Roadmap for an early gene therapy for cystic fibrosis airway disease.
Carlon Marianne S et al. Prenatal diagnosis 2017 Oct (Posted: Nov 15, 2017 9AM)

A comparison of two approaches to education about carrier testing for cystic fibrosis.
Leonard K P et al. Journal of genetic counseling 1995 Jun 4(2) 97-113 (Posted: Aug 30, 2017 9AM)

A survey of reimbursement for cystic fibrosis carrier testing.
Bernhardt B A et al. Journal of genetic counseling 1993 Jun 2(2) 69-76 (Posted: Aug 30, 2017 9AM)

A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.
Lucarelli Marco et al. The Journal of molecular diagnostics : JMD 2017 Jul (Posted: Jul 26, 2017 9AM)

more


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch 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.
TOP