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69 hot topic(s) found with the query "Carrier screening"

Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Vivienne Souter et al. Circ Genom Precis Med 2024 3 e004457 (Posted: Mar 21, 2024 7AM)

From the abstract: "Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the LDLR gene in female individuals receiving reproductive carrier screening. This retrospective observational study included samples from female patients (aged 18–55 years) receiving a 274-gene carrier screening panel. P/LP LDLR variants were identified in 283 samples (1 in 324). No patients were identified with >1 P/LP variant. LDLR carrier frequency was higher in Asian (1 in 191 [95% CI, 1 in 142–258]) compared with White (1 in 417 [95% CI, 1 in 326–533]; P<0.001) or Black groups (1 in 508 [95% CI, 1 in 284–910]; P=0.004). "

Lessons learned from the first national population-based genetic carrier-screening program for Duchenne Muscular Dystrophy.
A Singer et al, Genetics in Medicine, September 12, 2023 (Posted: Sep 13, 2023 0PM)

From the abstract: " Of overall 85,737 DMD tests, 82 clinically significant findings were noted (0.095%, or 1:1046 women). In addition, 80 findings with uncertain clinical significance were detected (0.093%, or 1:1072), as well as 373 cases (0.4%, or 1:230) of single exon deletions subsequently identified as false-positives due to underlying single nucleotide variant, mostly variants in exon 8 in North African Jewish population, and in exon 48 in Arab Muslim population."

Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States
LE Hull et al, Genetics in Medicine, July 30, 2023 (Posted: Jul 31, 2023 11AM)

Although preconception reproductive genetic carrier screening (RGCS) is preferred to screening during pregnancy, population-wide preconception screening is not routinely performed in the U.S. We explored the multilevel barriers to the widespread adoption of preconception RGCS in the U.S. via key informant interviews. Barriers to preconception RGCS were identified at the levels of test characteristics, patients and couples, clinicians and care teams, and the external healthcare and policy environments.

Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis
A Busnelli et al, Genet Med, July 2023 (Posted: Jul 24, 2023 11AM)

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.

Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process
S van der Hout et al, EJHG, June 6, 2023 (Posted: Jun 06, 2023 8AM)

Expanded carrier screening (ECS) entails a screening offer for multiple recessive disorders at the same time, and allows testing of individuals or couples regardless of ancestry or geographic origin. Children of consanguineous couples have a higher-than-average risk of manifesting autosomal recessive disorders. This study aims to contribute to the responsible implementation of ECS for consanguineous couples.

Barriers to Completion of Expanded Carrier Screening in an Inner City Population.
Tirtza S Strauss et al. Genet Med 100858 (Posted: Apr 23, 2023 6AM)

At our academic center, publicly insured prenatal patients underwent universal Expanded Carrier Screening (ECS) to promote equitable care. The aim of the study was to evaluate rates, time, and barriers to complete ECS. The study highlights significant barriers to completion. There was suboptimal patient follow up and low partner screening, perhaps from insufficient time to educate and counsel.

Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia
D Schofield et al, Genetics in Medicine, February 12, 2023 (Posted: Feb 13, 2023 7AM)

Expanded RCS was cost-saving compared with no population screening and cost-effective compared to the three-condition screening (ICER of $6,287 per QALY gained) at an uptake rate of 50% for RCS, 59% for IVF and preimplantation genetic testing, 90% for prenatal diagnosis testing and 50% for elective termination of affected pregnancies and a cost of A$595 per couple screened.

Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening
L Freeman et al, EJHG, February 9, 2023 (Posted: Feb 09, 2023 6AM)

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.

Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System
LE Hull et al, JAMA Network Open, November 8, 2022 (Posted: Nov 08, 2022 0PM)

Are site of care, clinician, and patient-specific factors associated with differences in whether reproductive genetic carrier screening was ordered prior to vs during pregnancy across a health care system? This cross-sectional study of 6509 patients who completed carrier screening ordered across the Mass General Brigham integrated health care system in Boston, Massachusetts, including 4 hospitals, 32 clinical sites, and 161 ordering clinicians, from October 1, 2018, through September 30, 2019, found that most (63%) had prenatal screening. Clinician specialty was associated with the greatest variation in timing among observed characteristics.

Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening
L Dive et al, EJHG, November 7, 2022 (Posted: Nov 07, 2022 8AM)

Genetic counsellors and other healthcare providers, along with consumer and community groups, have a central role in leading the discussion that is needed prior to implementing reproductive genetics carrier screening (RGCS). Drawing on relevant clinical perspectives can inform the development and implementation of ethically robust offerings of RGCS that go some way towards responding to the societal ethical concerns identified in a recent review.

Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review
S Edwards et al, J Per Medicine, October 2022 (Posted: Oct 13, 2022 6AM)

Four broad themes were identified in the existing literature: (1) The offer—when and in what context to offer screening; (2) Information—the importance of and what to include in education, and pre- and post-test counselling; (3) Who and how—who the genetic counselling is performed by and how; (4) Personalization—how do we find the balance between standardized and individualized approaches? Based on the existing literature, we present a set of recommendations for consideration in implementing population-scale reproductive genetic carrier screening as well as suggested areas for future research.

Societal implications of expanded universal carrier screening: a scoping review
LM van der Heuvel el a, EJHG, September 12, 2022 (Posted: Sep 12, 2022 1PM)

Forty articles were included. Three main potential societal implications were identified: (1) unwanted medicalization, (2) stigmatization and discrimination of carriers and people affected with the conditions screened and (3) challenges in achieving equitable access. Within these themes, potential positive implications are reduction of ethnic stigmatization in ancestry-based offers and increased equity. Potential negative implications are reinforcement of disability-based stigmatization, less possibility for developing expertise in healthcare and societal pressure to partake in screening.

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat Paranchai et al. NPJ genomic medicine 2022 7 (1) 45 (Posted: Jul 31, 2022 7AM)

Ethically robust reproductive genetic carrier screening needs to measure outcomes that matter to patients
L Dive et al, EJHG, May 18, 2022 (Posted: May 18, 2022 7AM)

Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review
E Richardson et al, EJHG, March 28, 2022 (Posted: Mar 29, 2022 7AM)

We conducted a narrative synthesis to group outcomes within domains previously defined in our review of quantitative studies, and identify any new domains that were unique to qualitative studies. Seventy-eight outcomes were derived from qualitative studies and grouped into 19 outcome domains. Three new outcome domains were identified; ‘goals of pre- and post-test genetic counselling’, ‘acceptability of further testing and alternative reproductive options’, and ‘perceived utility of RGCS’.

ACMG Carrier Screening Guidelines: Falling Short On Equity and Inclusion
K Stoll et a, The DNA Exchange, July 2021 (Posted: Jul 28, 2021 8AM)

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.

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
KE Kaseniit et al, Genetics in Medicine, June 29, 2020 (Posted: Jun 29, 2020 9AM)

For 93,419 individuals undergoing expanded carrier screen, correspondence was assessed among carrier status, self-reported ethnicity, and genetic ancestry calculated from sequencing data. Self-reported ethnicity was an imperfect indicator of genetic ancestry, with 9% of individuals having >50% genetic ancestry inconsistent with self-reported ethnicity.

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
DM Kay et al, Genetics in Medicine, May 18, 2020 (Posted: May 19, 2020 7AM)

At 1 in 28,137 (95% confidence interval [CI]: 1 in 14,259 to 55,525), the New York State SMA incidence is 2.6- to 4.7-fold lower than expected. The low SMA incidence is likely attributable to imprecise and biased estimates, coupled with increased awareness, access to and uptake of carrier screening and prenatal diagnosis.

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach
M Westemeyer et al, Genetics in Medicine, May 6, 2020 (Posted: May 07, 2020 6AM)

Compared with standard screening, NGS-based CS provides additional information that may impact reproductive choices. Pan-ethnic CS leads to substantially increased identification of at-risk couples.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen Xiao et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb (Posted: Feb 20, 2020 10AM)

Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines
KE Kaseniit et al, MedRXIV, December 29, 2019 (Posted: Dec 29, 2019 8AM)

Despite strong association between genetic ancestry and carrier status, current carrier-screening guidelines recommend testing for a limited set of conditions based on patient self-reported ethnicity, which conflates genetic and cultural factors.

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions
M Balzotti et al, MedRXIV, December 15, 2019 (Posted: Dec 15, 2019 4PM)

We applied a standardized framework for evaluation of gene-disease association to assess the clinical validity of conditions screened by ECS panels. Methods: The ClinGen gene curation framework was used to assess genetic and experimental evidence of associations between 208 genes and conditions screened on two commercial ECS panels.

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.
Fridman Hila et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct (Posted: Oct 20, 2019 11AM)

Expanded preconception carrier screening (ECS) identifies at-risk couples (ARCs) for multiple diseases. ECS reports currently include only pathogenic/likely pathogenic variants (P/LPVs). Variants of unknown significance (VUS) are not reported. The study examined the impact of VUS on ECS yield in an Ashkenazi Jewish cohort.

Carrier screening for recessive disorders
S Antonarakis, Nature Reviews Genetics, May 30, 2019 (Posted: May 31, 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)

Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
MH Guo et al, Genetics in Medicine, March 8, 2019 (Posted: Mar 08, 2019 0PM)

Feasibility of couple-based expanded carrier screening offered by general practitioners
J Shuurmans et al, Eur J Hum Genetics, February 11, 2019 (Posted: Feb 14, 2019 8AM)

Expanded reproductive carrier screening—how can we do the most good and cause the least harm?
MB Delatycki et al, Eur J Hum Genetics, February 13, 2019 (Posted: Feb 14, 2019 8AM)

The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling.
Larsen Dana et al. Prenatal diagnosis 2019 Feb (Posted: Feb 12, 2019 10AM)

Clinical utility of expanded carrier screening: results-guided actionability and outcomes
KA Johansen et al, Genetics in Medicine, October 11, 2018 (Posted: Oct 11, 2018 0PM)

The evolving landscape of expanded carrier screening: challenges and opportunities.
Kraft Stephanie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep (Posted: Sep 25, 2018 11AM)

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Punj Sumit et al. American journal of human genetics 2018 May (Posted: May 17, 2018 1PM)

Adopted Individuals' Views on the Utility and Value of Expanded Carrier Screening.
Spencer Sara et al. Journal of genetic counseling 2018 Mar (Posted: Apr 04, 2018 10AM)

Modern Family Planning
S Collins, Genome Magazine, Oct 2017 (Posted: Nov 06, 2017 6AM)

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.
Fan Chia Wei et al. Journal of genetic counseling 2017 Aug (Posted: Aug 16, 2017 8AM)

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Metcalfe Sylvia A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun (Posted: Aug 05, 2017 9AM)

Finding Middle Ground in Constructing a Clinically Useful Expanded Carrier Screening Panel.
Stevens Blair et al. Obstetrics and gynecology 2017 Jul (Posted: Jul 19, 2017 8AM)

Systematic design and comparison of expanded carrier screening panels
KA Beachamp et al, Genetics in Medicine, June 22, 2017 (Posted: Jun 23, 2017 11AM)

Genetic Carrier Screening in the Twenty-first Century.
Yao Ruofan et al. Clinics in laboratory medicine 2016 Jun 36(2) 277-88 (Posted: Jun 07, 2017 9AM)

Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.
Tardif Jessica et al. Prenatal diagnosis 2017 Apr (Posted: Apr 19, 2017 8AM)

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
Mehta Nikita et al. Genetic testing and molecular biomarkers 2016 Sep 20(9) 504-9 (Posted: Apr 05, 2017 11AM)

Carrier Screening in the Age of Genomic Medicine
ACOG, March 2017 (Posted: Feb 25, 2017 0PM)

Systematic Design and Comparison of Expanded Carrier Screening Panels
KA Beauchamp et al, BioXRIV preprints, November 10, 2016 (Posted: Nov 11, 2016 11AM)

The measurement of patient attitudes regarding prenatal and preconception genetic carrier screening and translational behavioral medicine: an integrative review.
Shiroff Jennifer J et al. Translational behavioral medicine 2016 Aug (Posted: Oct 16, 2016 8AM)

Systematic Design and Comparison of Expanded Carrier Screening Panels
KA Beauchamp et al, BioXRV, Oct 2016 (Posted: Oct 16, 2016 8AM)

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
Holtkamp Kim C A et al. European journal of human genetics : EJHG 2016 Feb 24(2) 171-7 (Posted: Oct 12, 2016 11AM)

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.
Holtkamp Kim C A et al. European journal of public health 2016 Aug (Posted: Aug 16, 2016 0PM)

Pros and cons of implementing a carrier genetic test in an infertility practice.
Gil-Arribas Elisa et al. Current opinion in obstetrics & gynecology 2016 Apr (Posted: Apr 13, 2016 11AM)

Carrier screening in the era of expanding genetic technology.
Arjunan Aishwarya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr (Posted: Apr 13, 2016 11AM)

Expanded carrier screening in an infertile population: how often is clinical decision making affected?
JM Franasiak et al, Genetics in Medicine, March 3, 2016 (Posted: Mar 03, 2016 11AM)

"It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.
Archibald Alison D et al. Journal of community genetics 2016 Feb (Posted: Feb 10, 2016 9AM)

The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.
Stafler Patrick et al. J. Cyst. Fibros. 2015 Sep 16. (Posted: Sep 23, 2015 1PM)

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.
Janssens Sandra et al. Eur. J. Hum. Genet. 2015 Jul 29. (Posted: Aug 04, 2015 2PM)

Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Mathijssen Inge B et al. Eur J Med Genet 2015 Mar (3) 123-8 (Posted: Jul 28, 2015 1PM)

The Israeli national population program of genetic carrier screening for reproductive purposes.
Zlotogora Joël et al. Genet. Med. 2015 Apr 16. (Posted: Jul 28, 2015 1PM)

"Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening.
Schneider Jennifer L et al. J Genet Couns 2015 Jun 21. (Posted: Jul 28, 2015 1PM)

Changing Trends in Carrier Screening for Genetic Disease in the United States.
Nazareth Shivani B et al. Prenat. Diagn. 2015 Jul 3. (Posted: Jul 28, 2015 1PM)

"Suddenly Having two Positive People who are Carriers is a Whole New Thing"- Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia.
Ioannou Liane et al. J Genet Couns 2015 May 1. (Posted: May 06, 2015 10AM)

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
ACOG Committee on Genetics. Obstet Gynecol 2009 Oct (4) 950-3 (Posted: Feb 23, 2015 8AM)

Carrier screening in individuals of Ashkenazi Jewish descent.
Gross Susan J et al. Genet. Med. 2008 Jan (1) 54-6 (Posted: Feb 21, 2015 9AM)

Expanded carrier screening panels-does bigger mean better?
Wienke Sara et al. J Community Genet 2014 Apr (2) 191-8 (Posted: Feb 14, 2015 7AM)

Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders.
Langlois Sylvie et al. Prenat. Diagn. 2015 Jan (1) 23-8 (Posted: Feb 14, 2015 7AM)

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.
Lazarin Gabriel A et al. PLoS ONE 2014 (12) e114391 (Posted: Feb 14, 2015 7AM)

Policy statement on preconception carrier screening,
Philippa Brice, PHG Foundation, February 10, 2015 (Posted: Feb 14, 2015 7AM)

Expanded carrier screening in reproductive medicine: New joint statement is released in ACOG?s Obstetrics & Gynecology,
Newswire, February 6, 2015 (Posted: Feb 14, 2015 7AM)

Expanded carrier screening in reproductive medicine: New joint statement is released in ACOG's Obstetrics & Gynecology [PDF 1.31 MB]
American College of Medical Genetics and Genomics, February 2015 (Posted: Jan 01, 2014 0AM)


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.
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