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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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71 hot topic(s) found with the query "Genetic screening"

Challenges and opportunities for Lynch syndrome cascade testing in the United States.
Lauren E Passero et al. Fam Cancer 2024 3 (Posted: Apr 02, 2024 10AM)

From the abstract: " Lynch syndrome is an underdiagnosed genetic condition that increases lifetime colorectal, endometrial, and other cancer risk. Cascade testing in relatives is recommended to increase diagnoses and enable access to cancer prevention services, yet uptake is limited due to documented multi-level barriers. Individual barriers such as feelings of fear, guilt, and anxiety and limited knowledge about Lynch syndrome as well as interpersonal barriers including complex family dynamics and language barriers limit family communication about Lynch syndrome and prevent uptake of genetic screening for relatives. Organizational and environmental barriers including a shortage of genetics professionals, high costs, and fears of discrimination also reduce cascade testing. These multi-level barriers may disproportionately impact underserved populations in the United States,"

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
C Tang et al, IJNS, March 2024 (Posted: Apr 02, 2024 9AM)

From the abstract: " We performed a multicenter study of 29,601 newborns from eight screening centers with NBS via NGS combined with MS/MS. A custom-designed panel targeting the coding region of the 142 genes of 128 inborn errors of metabolism (IEMs) was applied as a first-tier screening test, and expanded NBS using MS/MS was executed simultaneously. In total, 52 genes associated with the 38 IEMs screened by MS/MS were analyzed. The NBS performance of these two methods was analyzed and compared respectively. A total of 23 IEMs were diagnosed via NGS combined with MS/MS. The incidence of IEMs was approximately 1 in 1287. Within separate statistical analyses, the positive predictive value (PPV) for MS/MS was 5.29%, and the sensitivity was 91.3%. However, for genetic screening alone, the PPV for NGS was 70.83%, with 73.91% sensitivity. "

Combining rare and common genetic variants improves population risk stratification for breast cancer
A Bolze et al, Genetics in Medicine Open, February 2, 2024 (Posted: Feb 05, 2024 11AM)

From the abstract: " This study aimed to evaluate the performance of different genetic screening approaches to identify women at high-risk of breast cancer in the general population. We retrospectively studied 25,591 women with available electronic health records and genetic data, participants in the Healthy Nevada Project. Family history of breast cancer was ascertained on or after the record of breast cancer for 78% of women with both, indicating that this risk assessment method is not being properly utilized for early screening. Genetics offered an alternative method for risk assessment. 11.4% of women were identified as high-risk based on possessing a predicted loss-of-function (pLOF) variant in BRCA1, BRCA2 or PALB2 (hazard ratio = 10.4, 95% confidence interval: 8.1-13.5), or a pLOF variant in ATM or CHEK2 (HR = 3.4, CI: 2.4-4.8), or being in the top 10% of the polygenic risk score (PRS) distribution (HR = 2.4, CI: 2.0-2.8). "

Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening
G Nicolas et al, Genetics in Med, January 24, 2024 (Posted: Jan 25, 2024 7AM)

From the abstract: "We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients. We built a framework for risk variant interpretation and risk gradation and assessed the detection rates among early-onset AD (EOAD, age of onset (AOO) =65 years, n=608) depending on AOO and pedigree structure and late-onset AD (LOAD, 66<AOO<75, n=92).Twenty-one patients carried a LP/P variant in a Mendelian gene (all with EOAD, 3.4%), 20/21 affected APP, PSEN1 or PSEN2. LP/P variant detection rates in EOAD ranged from 1.7% to 11.6% based on AOO and pedigree structure. "

The Ethics of Using COVID-19 Host Genomic Information for Clinical and Public Health Decision-making: A Survey of US Health Professionals.
Sheethal Jose et al. HGG Adv 2023 11 100255 (Posted: Nov 20, 2023 8AM)

From the abstract: "In 2021, a cross-sectional online survey was fielded to US health professionals. The survey explored how they view the value and ethical acceptability of using COVID-19 host genomic information in three main decision-making settings: (1) clinical, (2) public health, and (3) workforce. The survey also assessed participants' personal and professional experience with genomics and infectious diseases and collected key demographic data. A total of 603 participants completed the survey. A majority (84%) of participants agreed that it is ethically acceptable to use host genomics to make decisions about clinical care and 73% agreed that genetic screening has an important role to play in the public health control of COVID-19. However, more than 90% disagreed that it is ethically acceptable to use host genomics to deny resources or admission to individuals when hospital resources are scarce. "

Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients.
Nandana D Rao et al. Eur J Hum Genet 2023 9 (Posted: Sep 27, 2023 8AM)

From the abstract: "Overall, 2761 people received uninformative results and 1352 (49%) completed survey items. Respondents averaged 41 years old, 62% were female, and 56% were Non-Hispanic Asian. Results from the FACToR instrument showed mean (SD) scores of 0.92 (1.34), 7.63 (3.95), 1.65 (2.23), and 0.77 (1.50) for negative emotions, positive emotions, uncertainty, and privacy concerns, respectively, suggesting minimal psychosocial harms from genetic screening. Overall, 12.2% and 9.6% of survey respondents believed that their risk of cancer or heart disease, respectively, had changed after receiving their uninformative genetic screening results. Further, 8.5% of respondents planned to make healthcare changes and 9.1% other behavior changes. "

The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California
MT Nguyen et al, Genet in Med Open, September 2023 (Posted: Sep 05, 2023 9AM)

From the abstract: "In this primarily low-income, publicly insured, Spanish-speaking population, we identified 98 pregnancies for which partner genetic screening or testing was indicated. Only 26.5% (n=26) completed testing, which did not vary by indication, parental age, parental race, parity, or primary language. Completion of partner genetic screening or testing was significantly linked to earlier gestational age at referral for genetic counseling (19.1 versus 21.5 weeks, p=0.006). Less than one-third of pregnancies received indicated partner genetic screening or testing. Early referral to genetic counseling may improve partner testing completion rates, which could avoid invasive and unnecessary diagnostic testing in the pregnant patient."

Factors influencing genetic screening enrollment among a diverse, community-ascertained cohort: Factors influencing genetic screening enrollment
ND Rao et al, Public Health Genomics, August 21, 2023 (Posted: Aug 21, 2023 2PM)

Overall, learning about disease risk and identifying risk early for prevention purposes were important factors in decision-making to receive screening and regrets about screening and screening being against one’s moral code were not viewed as important. Although racial identity was challenging to assign in all cases, compared to other enrollees, African American and Asian enrollees considered test accuracy and knowing more about the test to be of greater importance. Three themes emerged related to nonparticipation: benefits do not outweigh risks, don’t want to know, and challenges with study logistics.

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon
TD O'Brien et al, AJHG, July 27, 2023 (Posted: Jul 30, 2023 10AM)

The Healthy Oregon Project (HOP) is a statewide effort that aims to build a large research repository and influence the health of Oregonians through providing no-cost genetic screening to participants for a next-generation sequencing 32-gene panel comprising genes related to inherited cancers and familial hypercholesterolemia. Overall, we have identified 730 pathogenic/likely pathogenic variants in 710 participants in 24 of the 32 genes on the panel. The carrier rate for pathogenic/likely pathogenic variants in the inherited cancer genes on the panel for an unselected population was 5.0% and for familial hypercholesterolemia was 0.3%.

Population-based Genomic Screening Programs: The Need for Optimal Implementation to Ensure Health Equity
N Rao et al, CDC Blog Post, June 20, 2023 Brand (Posted: Jun 20, 2023 1PM)

Differences in population genetic screening program design influence enrollment rates, particularly during the recruitment phase. In the absence of careful attention to how communities are engaged about genetic screening, population genetic screening may not reach all people, and existing health disparities could be widened. The effectiveness of population-wide screening to identify at-risk individuals will subsequently be diminished.

Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.
Amy R Kontorovich et al. JACC. Heart failure 2023 2 (2) 133-142 (Posted: Mar 01, 2023 0PM)

Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. The yield of genetic testing is optimized when performed on a proband with a clear phenotype, and interrogates genes that are validated in association with that specific form of cardiomyopathy. Variants of uncertain significance are frequently uncovered and should not be overinterpreted.

Beyond genetic screening-functionality-based precision medicine in monogenic obesity.
Antje Körner et al. The lancet. Diabetes & endocrinology 2023 2 (3) 143-144 (Posted: Feb 28, 2023 7AM)

Most genes causing monogenic obesity are implicated in the central energy regulatory circuits of the leptin-melanocortin pathway. Even though monogenic obesity is still a rare disease entity, identifying these patients is important since there are now promising treatment options such as setmelanotide, a melanocortin receptor agonist, which was recently approved by the US Food and Drug Administration and European Medicines Agency

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort
N Rao et al, MEDRXIV, December 2022 (Posted: Feb 13, 2023 2PM)

Overall, 40,857 people were invited and 2,899 (7.1%) enrolled. Enrollment varied across race and ethnicity groups, with the lowest enrollment among African American individuals (3.3%) and the highest among Multiracial or Other Race individuals (13.0%). Of 2,864 enrollees who received screening results, 106 actionable variants were identified in 103 individuals (3.6%). Of those who screened positive, 30.1% already knew about their results from prior genetic testing. The diagnostic yield was 74 new, actionable genetic findings (2.6%).

Benefits, Harms and Costs of Newborn Genetic Screening for Hypertrophic Cardiomyopathy: Estimates from the PreEMPT Model
KD Chrisiensen et al, Genetics in Medicine, January 31, 2023 (Posted: Feb 01, 2023 6AM)

In a cohort of 3.7 million newborns, newborn genetic screening would reduce HCM-related deaths through age 20 by 44 (95% uncertainty interval (95% UI): 10 to 103) but increase the numbers of children undergoing surveillance by 8,127 (95% UI, 6,308 to 9,664). Compared to usual care, newborn genetic screening costs $267,000 per life-year saved (95% UI, $106,000 to $919,000 per life-year saved). Newborn genetic screening for HCM could prevent deaths but at a high cost and would require many healthy children to undergo surveillance.

Workforce Considerations When Building a Precision Medicine Program
CLB Zawatsky et al, J Per Med, November 20, 2022 (Posted: Nov 20, 2022 7AM)

This paper describes one healthcare system’s approach to strategically deploying genetic specialists and pharmacists to support the implementation of a precision medicine program. We report the necessary staffing including the genetic counselors, genetic counseling assistants, pharmacists, and geneticists. We examined the administrative and electronic medical records data to summarize genetic referrals over time as well as the uptake and results of an enterprise-wide genetic screening test. Between 2013 and 2020, the number of genetic specialists increased by 190%, from 10.1 full-time equivalents (FTEs) to 29.3 FTEs.

Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
AN Abou Tayoun, JAMA Network Open, July 11, 2022 (Posted: Jul 11, 2022 1PM)

A recent study suggests that targeted genetic screening—using population-specific common pathogenic variants—combined with physiological and cytomegalovirus testing may be an effective newborn screening strategy for hearing loss, in critically ill neonates and beyond. This combinatory approach has the additional benefit of identifying mild and later-onset hearing loss and providing valuable genetic information that is often missed by traditional NHBS. However, additional work is needed to characterize the genetic landscape of hearing loss across populations and to define the optimal population-wide genetic screening method for deafness.

Barriers and facilitators for population genetic screening in healthy populations: a systematic review
EC Shen et al, Frontiers in Genetics, May 2022 (Posted: Jun 06, 2022 7AM)

Barriers and facilitators to population genetic screening were organized by the Social Ecological Model and further categorized by themes. We found that research in population genetic screening has focused on stakeholder attitudes with all included studies designed to elucidate individuals’ perceptions. Additionally, inadequate knowledge and perceived limited clinical utility presented a barrier for healthcare provider uptake. There were very few studies that conducted long-term follow-up and evaluation of population genetic screening.

Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record
G Elhanan et al, Frontiers in Genetics, April 2022 (Posted: May 26, 2022 7AM)

The clinical value of population-based genetic screening projects depends on the actions taken on the findings. The Healthy Nevada Project (HNP) is an all-comer genetic screening and research project based in northern Nevada. HNP participants with CDC Tier 1 findings of hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), or familial hypercholesterolemia (FH) are notified and provided with genetic counseling. However, the HNP subsequently takes a “hands-off” approach: it is the responsibility of notified participants to share their findings with their healthcare providers, and providers are expected to implement the recommended action plans.

Genetic screening can improve drug prescribing- Most people carry at least one mutation that can stop a drug working properly
The Economist, April 16, 2022 (Posted: Apr 14, 2022 1PM)

Peter ley, a retired civil servant who lives in London, was diagnosed with colon cancer in 2017. An operation to remove the tumour was successful. But the chemotherapy that followed caused a severe reaction that required a two-week hospital stay and a pause in his cancer treatment. All that could have been avoided had a simple test been done. The test examines a gene that encodes a liver enzyme called dihydropyrimidine dehydrogenase (or dpd for short).

Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research
F Johnson et al, EJHG, March 8, 2022 (Posted: Mar 08, 2022 8AM)

Our findings suggest that results of uncertain clinical relevance are often experienced in the same way as a ‘full-blown’ diagnosis. This has significant emotional and behavioral impact, for example adoption of lifestyle-altering disease-focused behaviors. Analysis suggests this may be due to the results not fitting a common medical model, leading recipients to interpret the significance of the result maladaptively. Findings suggest scope for professionals to negotiate and reframe uncertain screening results. Clearer initial communication is needed to reassure recipients there is no immediate severe health risk from these types of results.

Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records
KMS Barrett et al, Genetics in Medicine, August 13, 2021 (Posted: Aug 13, 2021 8AM)

We identify 74 statistically significant gene–disease associations across 27 genes. Seven of these conditions have a positive predictive value (PPV) of at least 30% in both cohorts. Three are already used in population screening programs (BRCA1, BRCA2, LDLR), and we also identify four new candidates for population screening: GCK with diabetes mellitus, HBB with ß-thalassemia minor and intermedia, PKD1 with cystic kidney disease, and MIP with cataracts.

Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights.
Yeh Jennifer M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3 (Posted: Mar 27, 2021 7AM)

Among 3.7 million newborns, under usual care, 1,803 developed a CPS malignancy before age 20. With universal screening, 13.3% were identified at birth as at-risk due to P/LP variant detection and underwent surveillance, resulting in a 53.5% decrease in cancer deaths in P/LP heterozygotes and a 7.8% decrease among the entire cohort before age 20. Given a test cost of $55, universal screening cost $244,860 per life-year gained.

Genetic screening for TLR7 variants in young and previously healthy men with severe COVID-19: a case series
S Solanich et al, MEDRXIV, March 25, 2021 (Posted: Mar 25, 2021 7AM)

Successful incorporation of a genetic risk prediction research platform into routine newborn screening
OM Bendor-Samuel et al, MEDRXIV, March 1, 2021 (Posted: Mar 02, 2021 8AM)

Between April 2018 and November 2020, over 15500 babies were enrolled into INGR1D (Investigating Genetic Risk for T1D), a research study to identify newborns with an increased genetic risk of T1D. This project, performed as part of a T1D primary prevention study (the Primary Oral Insulin Trial, POInT), has helped to pioneer the integration of genetic screening into the NHS Newborn Blood Spot Screening Program (NBSSP) for consenting mothers, without affecting the screening pathway.

A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
Yang Haiyan et al. BMC medical genomics 2021 3 (1) 61 (Posted: Mar 01, 2021 8AM)

Congenital hearing loss is one of the most common birth defects. Early identification plays a crucial role in improving patients’ communication and language acquisition. Previous studies demonstrated that genetic screening complements newborn hearing screening in clinical settings. We developed a multiplex PCR amplicon sequencing assay to sequence the coding region of the GJB2 gene, the most pathogenic variants of the SLC26A4 gene, and hotspot variants in the MT-RNR1 gene.

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Shepheard Stephanie R et al. Journal of neurology, neurosurgery, and psychiatry 2021 Feb (Posted: Feb 19, 2021 10AM)

Routine screening for ALS-associated pathogenic mutations in a specialised ALS referral clinic will impact clinical care in 21% of cases. An additional 21% of patients have variants in the ALS gene panel currently of unconfirmed significance after removing non-specific or predicted benign variants. Overall, variants within known ALS-linked genes are of potential clinical importance in 42% of patients.

New Technique Identifies Important Mutations Behind Lynch Syndrome - Approach could improve predictive value of genetic screening.
K Malcom, University of Michigan, January 27, 2021 (Posted: Jan 29, 2021 8AM)

Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms
DE Gordon et al, Science, December 4, 2020 (Posted: Dec 04, 2020 6AM)

This study mapped the interactions between viral and human proteins for SARS-CoV-2, SARS-CoV-1, and MERS-CoV; analyzed the localization of viral proteins in human cells; and used genetic screening to identify host factors that enhance or inhibit viral infection. For a subset of interactions essential for the virus life cycle, the authors determined the cryo–electron microscopy structures and mined patient data to understand how targeting host factors may be relevant to clinical outcomes.

Association of NOTCH2NLC Repeat Expansions With Parkinson Disease
D Ma et al, JAMA, August 21, 2020 (Posted: Aug 25, 2020 7AM)

A genetic screening of NOTCH2NLC GGC repeat expansion was carried out in a cohort of 1000 patients with sporadic PD and 1076 healthy control participants. A total of 13 patients with PD were identified as carrying NOTCH2NLC GGC repeat expansions greater than 40 units, and no repeat expansions were detected in healthy control participants.

Could population genetic screening improve public health?
C Gallagher, Mayo Clinic Blog, August 2020 (Posted: Aug 19, 2020 7AM)

Studies have found predisposition genetic screening with a limited panel of genetic information to be cost effective in a population under the age of 45. However, a population health screening approach to genetic medicine requires scrutiny, given the potential for added costs, over interpretation of disease risk and ethical and social factors.

Population genetic screening efficiently identifies carriers of autosomal dominant diseases
JJ Grzymski et al, Nature Medicine, July 27, 2020 (Posted: Jul 27, 2020 1PM)

In a cohort of 26,906 participants in the Healthy Nevada Project, we found a 1.33% combined carrier rate for pathogenic and likely pathogenic genetic variants for HBOC, LS and FH. Of these carriers, 21.9% had clinically relevant disease, 90% had not been previously identified, and <19.8% had documentation in medical records of inherited risk, including family history.

Familial Hypercholesterolemia: Cardiovascular Risk Stratification and Clinical Management
J Kolominsky et al, ACC, June 1, 2020 (Posted: Jun 02, 2020 6AM)

FH is an underdiagnosed yet treatable disorder. Recognizing FH is of utmost importance due to the high risk of premature CAD and major adverse cardiovascular events. After diagnosis of an index case, there is a mandate to perform cascade lipid and/or genetic screening of all first-degree relatives.

Risk of Prostate Cancer Associated With Familial and Hereditary Cancer Syndromes.
Beebe-Dimmer Jennifer L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Mar JCO1902808 (Posted: Mar 27, 2020 8AM)

In this large, population-based, family database, the risk of prostate cancer varied by family history and was most strongly associated with early onset disease. These results are critically valuable in understanding and targeting high-risk populations that would benefit from genetic screening and enhanced surveillance.

Genetic Screening of the Patients with Primary Immunodeficiency by Whole-
B Erman et al, Ped Allergy Immunol Pulm,February 2020 (Posted: Mar 03, 2020 8AM)

Primary immunodeficiencies are characterized by susceptibility to recurrent infections, allergy, malignancies and autoimmunity. The identification of disease-causing genetic defects is critically important for treatment options. In last decade, next-generation sequencing-based methods has enabled the rapid genetic screening.

Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.
Brough Joe et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb (Posted: Feb 12, 2020 10AM)

What to Tell a Parent Who Worries a Young Child Has Autism.
Estes Annette et al. JAMA psychiatry 2019 Aug (Posted: Aug 12, 2019 8AM)

If a child is diagnosed with ASD, medical evaluation can determine whether co-occurring conditions, such as sensory motor difficulties, hearing problems, gastrointestinal symptoms, or seizures, are present. Genetic screening may identify known genetic syndromes that are associated with autism (eg, fragile X syndrome.

Family fights for genetic screening to save others from muscle-wasting disease afflicting their toddler
C Thorbecke, Good Morning America, July 9, 2019 (Posted: Jul 09, 2019 8AM)

When Shane was just 10 months old, he was diagnosed with Spinal Muscular Atrophy, a genetic disease that affects the motor nerve cells in the spinal cord, and eventually erodes your ability to eat, walk or even breathe. One of the issues with diagnosing SMA before a baby exhibits symptoms, however, is that the symptoms of the often deadly disease are largely undetectable for the first few months of a baby's life.

Recent trends in prenatal genetic screening and testing.
Pös Ondrej et al. F1000Research 2019 8 (Posted: Jun 26, 2019 9AM)

Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed
JJ Grzymski et al, BioRXIV Genetics, May 27, 2019 (Posted: May 29, 2019 11AM)

A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA -mutated breast cancer.
Forbes Carol et al. Cancer management and research 2019 112321-2337 (Posted: Apr 17, 2019 9AM)

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)

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

Breast cancer testing guidelines out of date, missing genetic screening, says study
S Scutti, CNN, December 10, 2018 (Posted: Dec 11, 2018 10AM)

Trends in genetic screening referral in breast cancer patients under the age of forty: 2001-2016.
Crispin Melanie et al. The breast journal 2018 Sep (Posted: Oct 03, 2018 8AM)

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten Eveline et al. Clinical genetics 2018 Sep (Posted: Sep 19, 2018 9AM)

Huge genetic-screening effort helps pinpoint roots of breast cancer Scientists have sifted through thousands of genetic sequences&#65279; in search of those that could foster tumours.
H Ledford, Nature, September 12, 2018 (Posted: Sep 14, 2018 2PM)

Noninvasive Prenatal Genetic Screening Using Cell-free DNA
MA Allyse et al, JAMA< July 30, 2018 (Posted: Jul 30, 2018 1PM)

Genetic screening can inform women of their breast and ovarian cancer risks
L Abaid, LA Times, July 5, 2018 (Posted: Jul 06, 2018 8AM)

Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing.
et al. American journal of medical genetics. Part A 2018 Jun (6) 1280-1282 (Posted: Jun 10, 2018 11AM)

The Status of Genetic Screening in Recurrent Pregnancy Loss.
Kaser Daniel et al. Obstetrics and gynecology clinics of North America 2018 Mar (1) 143-154 (Posted: Feb 26, 2018 9AM)

Battling depression with pharmacogenetics: Genetic screening could eliminate trial-and-error approach to medications
R Lewis, Genetic Literacy Project, Jan 23, 2018 (Posted: Jan 23, 2018 0PM)

Should ACS Patients Undergo FH Genetic Screening?
by Nicole Lou, Medpage Today, September 25, 2017 (Posted: Sep 27, 2017 10AM)

Sequencing all 24 human chromosomes uncovers rare disorders - Study from NIH and other institutions may help improve prenatal genetic screening
NIH, August 30, 2017 Brand (Posted: Aug 30, 2017 6PM)

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)

The Cost-effectiveness of Genetic Screening for Familial Hypercholesterolemia: a Systematic Review.
Rosso A et al. Annali di igiene : medicina preventiva e di comunita 29(5) 464-480 (Posted: Jul 19, 2017 8AM)

Genetic screening in sporadic ALS and FTD.
Turner Martin R et al. Journal of neurology, neurosurgery, and psychiatry 2017 Jun (Posted: Jun 28, 2017 10AM)

Perinatal genetic screening: new technologies help parents learn more about the health of their baby
S Rosen, Mayo clinic individualized medicine blog, June 2017 (Posted: Jun 28, 2017 8AM)

Current and Future Role of Genetic Screening in Gynecologic Malignancies.
Ring Kari L et al. American journal of obstetrics and gynecology 2017 Apr (Posted: Apr 17, 2017 9AM)

Genetic screening for neovascular AMD: cost effective…not so quick.
Reichel Elias et al. International journal of retina and vitreous 2015 124 (Posted: Nov 21, 2016 1PM)

The Cancer Moonshot, Hereditary Cancers and Population Genetic Screening
MJ Khoury et al, CDC Blog Post, October 18, 2016 Brand (Posted: Oct 19, 2016 7AM)

Genetic screening in young women diagnosed with endometrial cancer.
Pecorino Basilio et al. Journal of gynecologic oncology 2016 Sep e4 (Posted: Oct 05, 2016 2PM)

Genetic screening in the workplace.
et al. Journal of occupational and environmental medicine / American College of Occupational and Environmental Medicine 2010 Jul (7) 763 (Posted: Nov 24, 2015 9AM)

Genetic screening in sudden cardiac death in the young can save future lives.
Stattin Eva-Lena et al. Int. J. Legal Med. 2015 Jul 31. (Posted: Aug 04, 2015 2PM)

Genetic screening in patients with Retinoblastoma in Israel.
Sagi Michal et al. Fam. Cancer 2015 Mar 10. (Posted: Jun 21, 2015 6PM)

Cost-effectiveness analysis of preimplantation genetic screening and in vitro fertilization versus expectant management in patients with unexplained recurrent pregnancy loss.
Murugappan Gayathree et al. Fertil. Steril. 2015 Mar 12. (Posted: Apr 19, 2015 2PM)

Genetic screening and diagnosis in epilepsy?
Sisodiya Sanjay M et al. Curr. Opin. Neurol. 2015 Apr (2) 136-42 (Posted: Mar 24, 2015 11AM)

Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review.
Gleicher Norbert et al. Reprod. Biol. Endocrinol. 2014 22 (Posted: Feb 23, 2015 10AM)

New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies.
Milachich Tanya et al. Biomed Res Int 2014 306505 (Posted: Feb 23, 2015 10AM)

Differential utilization of expanded genetic screening tests in patients of reproductive ages from private and academic practices.
Schoen Corina et al. J Perinat Med 2014 Oct 8. (Posted: Feb 14, 2015 7AM)

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.
Shao Yunru et al. J Community Genet 2015 Jan 7. (Posted: Feb 14, 2015 7AM)

Genetic screening and testing in an episode-based payment model: preserving patient autonomy.
Sutherland Sharon et al. Obstetrics and gynecology 2014 Nov (5) 987-91 (Posted: Feb 12, 2015 8AM)


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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