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70 hot topic(s) found with the query "Cascade screening"

Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial
(Posted: Apr 19, 2024 10AM)

From the abstract: " Familial hypercholesterolemia (FH) is a heritable disorder affecting 1.3 million individuals in the USA. Eighty percent of people with FH are undiagnosed, particularly minoritized populations including Black or African American people, Asian or Asian American people, and women across racial groups. Family cascade screening is an evidence-based practice that can increase diagnosis and improve health outcomes but is rarely implemented in routine practice, representing an important care gap. In pilot work, we leveraged best practices from behavioral economics and implementation science—including mixed-methods contextual inquiry with clinicians, patients, and health system constituents—to co-design two patient-facing implementation strategies to address this care gap..."

Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives.
(Posted: Apr 18, 2024 7AM)

From the article: "Ever since genetic test results have been able to be reported, questions have arisen regarding their implications for genetic relatives. Alongside the proband in whom the initial diagnosis is made, family members often also have an interest in the information. Being informed allows an at-risk relative to consider genetic counseling and testing, and to act in advance to prevent or mitigate future morbidity. Indeed, supporting patients to communicate risk information to their relatives is now considered as a key aspect for maximizing the benefits of genomic medicine. "

Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
J Chiang et al, NPJ Genomic Medicine, April 5, 2024 (Posted: Apr 04, 2024 9AM)

From the abstract: " Despite growing efforts targeted at improving cascade testing uptake, current literature continues to reflect poor rates of uptake, typically below 30%. This study aims to systematically review current literature on intervention strategies to improve cascade testing, assess the quality of intervention descriptions and evaluate the implementation outcomes of listed interventions. This systematic review shows that most interventions have demonstrated success in improving cascade testing uptake. Uptake of cascade testing was highest with delivery arrangement (68%). However, the quality of description of interventions and assessment of implementation outcomes are often suboptimal, hindering their replication and implementation downstream."

Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review.
Clara Marquina et al. Pharmacoeconomics 2024 1 (Posted: Jan 30, 2024 10AM)

From the abstract: "A total of 21 studies evaluating 62 strategies were included in this review, most of the studies (95%) adopted a healthcare perspective in the base case, and majority were set in high-income countries. Strategies analysed included cascade screening (23 strategies), opportunistic screening (13 strategies), systematic screening (11 strategies) and population-wide screening (15 strategies). Most of the strategies relied on genetic diagnosis for case ascertainment. Based on reported willingness to pay thresholds for each setting, most CEA studies concluded that screening for FH compared with no screening was cost-effective, regardless of the screening strategy. Cascade screening resulted in the largest health benefits per person tested. "

Managing genetic information sharing at family and population level
A McNeill, EJHG, January 4, 2023 (Posted: Jan 05, 2024 8AM)

From the article: "The process by which the “at risk” relatives of a person with a genetic condition should be notified of the possible need for them to have genetic testing has long been controversial. At present, it is common practice to request the proband to inform relatives of the genetic condition, treatment and testing options. Uptake of cascade testing is generally low, and dissemination of the genetic information within families is a major barrier. "

Concordance of a High Lipoprotein(a) Concentration Among Relatives.
Laurens F Reeskamp et al. JAMA Cardiol 2023 10 (Posted: Oct 13, 2023 1PM)

From the abstract: "What is the prevalence of high lipoprotein(a) concentrations (=125 nmol/L) in first- and second-degree relatives of individuals with high lipoprotein(a) levels? In this cross-sectional study, 1607 of 3420 (47.0%) first-degree relatives of UK Biobank participants with a lipoprotein(a) concentration at least 125 nmol/L were similarly affected, compared with 4974 of 30 258 (16.4%) unrelated individuals. Cascade screening of first-degree relatives of individuals with high lipoprotein(a) levels, if implemented at scale, is likely to identify a substantial number of additional high-risk individuals. "

Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.
Brandie Heald et al. J Natl Cancer Inst 2023 9 (Posted: Oct 02, 2023 11AM)

From the abstract: "Cascade testing using multigene panels was performed in 3,696 relatives of 7,433 probands. Unexpected PGVs were identified in 230 (6.2%) relatives, including 144 who were negative for the familial PGV but positive for a PGV in a different gene than the proband and 74 who tested positive for the familial PGV and had an additional PGV in a different gene than the proband. Of the relatives with unexpected PGVs, 36.3% would have qualified for different or additional cancer screening recommendations. Limiting cascade testing to only the familial PGV would have resulted in missed, actionable findings for a subset of relatives."

Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
A Rosen et al, EJHG, July 20, 2023 (Posted: Jul 20, 2023 7AM)

Germline genetic testing often has implications not only for the individual patient but also for their genetic relatives. This is especially true for high-penetrance pathogenic variants associated with conditions such as familial hypercholesterolemia and hereditary cancer risk syndromes like Lynch syndrome and the hereditary breast and ovarian cancer syndrome. For these conditions, targeted prevention programs are available, and cascade screening is cost-effective. It is therefore highly relevant to find effective strategies to disclose information from the genetic investigation to healthy relatives at risk. Informing relatives at risk enables equitable access to pre-test genetic counselling and a possibility for them to make an informed decision about genetic testing as well as prevention.

Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public
JM Tiller et al, EJHG June 6, 2023 (Posted: Jun 06, 2023 8AM)

Genetic risk information for medically actionable conditions has relevance for patients’ blood relatives. However, cascade testing uptake in at-risk families is <50%, and the burden of contacting relatives is a significant barrier to dissemination of risk information. Health professionals (HPs) could notify at-risk relatives directly, with patients’ consent. This practice is supported by international literature, including strong public support.

Cost-effectiveness and Return on Investment of a Nationwide Case-Finding Program for Familial Hypercholesterolemia in Children in the Netherlands.
Zanfina Ademi et al. JAMA Pediatr 2023 5 (Posted: May 02, 2023 8AM)

In this economic evaluation of a hypothetical population of 1000 FH children aged 10 years, nationwide case finding was associated with saved lives and improved quality of life over a lifetime. The incremental cost-effectiveness ratio for cascade screening and initiation of treatment with statins in children vs later detection and treatment was €9220 ($10?050) per quality-adjusted life-year gained, that from a health care perspective and a societal perspective was cost saving and the return on investment for the detection and treatment program for FH in children was €8.37 ($9.12).

Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes
MD Ahsan et al, EJHG, April 28, 2023 (Posted: Apr 28, 2023 8AM)

Mathematical modeling suggests that the combination of germline genetic testing at time of cancer diagnosis with subsequent cascade testing of at-risk relatives has the potential to identify all individuals with a cancer predisposing pathogenic variant in the United States in less than a decade [4]. However, our recent systematic review demonstrates that only about a third of at-risk relatives undergo recommended cascade testing.

Human-centered design study to inform traceback cascade genetic testing programs at three integrated health systems
KM Romagnoli et al, Public Health Genomics, March 2023 (Posted: Mar 04, 2023 8AM)

We interviewed 70 participants and identified five preferred experiences for a traceback program. Participants strongly prefer discussing genetic testing with their doctor but are comfortable discussing with other clinicians. The most highly preferred experience for both probands and relatives was to discuss with a knowledgeable clinician who can answer questions, followed by directed (sent directly to specific people) or passive (shared in a public area) communication. Repeated contact was acceptable for reminders.

Cascade testing following exome sequencing: Retrospective analysis of linked family data at two US laboratories
J Stefka et al, Genetics in Medicine, February 24, 2023 (Posted: Feb 25, 2023 7AM)

Among 3,723 positive ES across both laboratories, 426 relatives of 282 probands completed cascade testing (uptake: 7.6%). An average of 1.5 relatives (SD 0.9) were tested per proband. Among the 426 relatives tested, 200 had a variant of interest detected (variant detection yield: 47.0%). In our real-world data analysis, a small proportion of probands with a positive ES subsequently had relatives complete cascade testing at the same laboratory. However, approximately half of the relatives tested received a clinically significant result that could have implications for clinical management or reproductive planning.

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort
M Sarki et al, J Per Med, October 19, 2022 (Posted: Oct 20, 2022 8AM)

Among n = 115 relatives who completed the baseline survey, 38% (n = 44) were in the GT (-) group. Being male (OR: 2.79, 95% CI: 1.10–7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03–19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55–0.92). Reasons for forgoing cascade testing were lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs.

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
D Kariyawasam et al, EJHG, June 27, 2022 (Posted: Jun 27, 2022 10AM)

A retrospective population-based cohort study of all genetically and/or histopathologically confirmed males with DMD, born in New South Wales and the Australian Capital Territory was undertaken from 2002–2012. Cases were identified using state-wide molecular laboratory and clinical databases. The annual disease incidence and “theoretically” preventable cases were extrapolated over the study period. Proband genotype/phenotype, pedigree analysis, carrier-risk and extent of cascade screening were also determined. The cumulative incidence of disease was 19.7 per 100,000 male live births and 1 in 5076 live born males were diagnosed with DMD.

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives
TS Schmiden et al, Frontiers in Genetics, June 16, 2022 (Posted: Jun 17, 2022 9AM)

As population-based and proactive screening methods begin to become more widespread, it is critical to understand how these testing approaches may impact at-risk relatives. Currently, the utilization of cascade testing in a non-indication-based, proactive setting is less well understood and uptake rates have not yet been reported. This study compared findings between two cohorts that differed in how NGS was pursued: indication-based diagnostic testing versus non-indication-based proactive screening. The findings reported allow not only for insights into differences between diagnostic and proactive results, but also more generally to ordering patterns for diagnostic testing or proactive screening for HCS and FH.

Cardiovascular Genetics: The Role of Genetics in Predicting Risk.
Chowns Jessica et al. The Medical clinics of North America 2022 106(2) 313-324 (Posted: Mar 05, 2022 7AM)

Many cardiovascular disorders have underlying genetic causes. Clinical genetic testing for cardiovascular disease has become widely available and can be useful for diagnosis, management, and cascade screening in selected conditions and circumstances. This article gives an overview of the current state of genetic testing in inherited cardiovascular conditions, who can benefit from it, and the associated challenges.

Equitable Implementation of Cascade Testing for Genetic Disorders: Where are We?
M Clyne et al, CDC Blog Post, January 31, 2022 Brand (Posted: Feb 01, 2022 7AM)

Testing relatives of individuals with genetic disorders, a process known as cascade testing or cascade screening, is critical for identifying those needing health services that can prevent morbidity and mortality. Yet, cascade testing is poorly implemented in clinical practice.

Index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes
M Abedalthagafi, EJHG, January 22, 2022 (Posted: Jan 24, 2022 2PM)

Identification of a cancer pathogenic variant variant in an index-case facilitates management strategies such as decisions around the extent of surgical management or targeted therapeutic strategies. It also defines the cancer prevention and early detection strategies in at-risk family members. Cascade screening also reassures non-carrier relatives, excluding them from intensive surveillance and at the same time, contributing to the cost-effectiveness of genetic testing for a wider population.

A Mini-Symposium: Implementing Precision and Equitable Public Health in Cascade Testing for Genetic Disorders
CDC event, Feb 10, 2022 Brand (Posted: Dec 13, 2021 2PM)

While there are Tier 1 evidence-based guidelines supporting cascade testing for hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial hypercholesterolemia, and other genetic disorders, the focus is on whether such testing should be done, rather than how to implement cascade testing in practice, both effectively and equitably. Before the full potential health impact of cascade genetic testing can be reached, we must develop a much stronger understanding of which component procedures and practices work best, and then leverage those good practices toward delivering precision public health. This two-hour virtual mini-symposium will explore several efforts to better understand what works well in programs relevant to cascade testing for genetic disorders.

Studies Focus on Testing Family Members of Cancer Gene Carriers
NCI, November 2021 Brand (Posted: Dec 04, 2021 6AM)

NCI released a funding opportunity to test a “traceback” strategy, where researchers are finding the women who were previously diagnosed with ovarian cancer, communicating with them (or with their family members if they have died), and offering genetic testing. Traceback is a unique approach to genetic testing because the idea is to work backwards and find previously diagnosed cases to test to improve the detection of families at risk. Three grants using different approaches for traceback testing were funded for 4 years; projects are expected to be completed in 2023. The overall goal is to evaluate the best way to communicate sensitive genetic information to ovarian cancer patients and their immediate family members. Challenges associated with privacy laws and ethical concerns, differences in cultural traditions, and medical literacy are taken into account.

A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial
LM van den Heuvel et al, EJHG, November 24, 2021 (Posted: Nov 25, 2021 9AM)

If undetected, inherited cardiac conditions can lead to sudden cardiac death, while treatment options are available. Predictive DNA testing is therefore advised for at-risk relatives, and probands are currently asked to inform relatives about this. However, fewer than half of relatives attend genetic counselling. In this trial, we compared a tailored approach to informing relatives, in which probands were asked whether they preferred relatives to be informed by themselves or by the genetic counsellor, with current practice.

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.

Family Sharing Tools
The FH Foundation, July 2021 (Posted: Jul 21, 2021 7AM)

Learning that you have familial hypercholesterolemia (FH) is very different than learning that you simply have high cholesterol. Your diagnosis in not just “your diagnosis.” It is, simply put, your entire family’s diagnosis.

A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia
A Ajufo et al, Genetics in Medicine, May 26, 2021 (Posted: May 27, 2021 7AM)

We randomized 240 individuals with a clinical diagnosis of FH to genetic testing for FH (n?=?160) or usual care with lipid testing alone (n?=?80). We observed a low rate of family participation in cascade screening despite repeated recommendations to probands. Compared to usual care, genetic testing did not improve family participation in cascade screening for FH.

New Research to Improve Screening for FH
The FH Foundation, April 27, 2021 (Posted: Apr 28, 2021 8AM)

A strategic imperative is to increase FH diagnosis and improve the rate of cascade screening. In addition to the progress we recently reported from the IMPACT FH study with Geisinger, we are proud to report the latest research that highlights the potential to improve cascade screening by utilizing direct contact of relatives through the FH Foundation.

Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members
KS Finn et al, EJHG, April 19, 2021 (Posted: Apr 19, 2021 9AM)

Participants’ intent to share with parents, siblings, and children was inversely related to the number of anticipated barriers to sharing and directly related to the number of anticipated benefits to sharing. Of those participants who did not intend to share with parents, siblings, and adult children, 64.8%, 30.3%, and 67.6% reported that there were no barriers, while 17.1%, 24.5%, and 40.2.% reported there were no benefits.

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis.
Baroutsou Vasiliki et al. Cancers 2021 13(4) (Posted: Mar 09, 2021 9AM)

The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. 14 articles met the inclusion criteria and were included in the narrative synthesis.

Barriers and facilitators for cascade testing in genetic conditions: a systematic review
S Srinivasan et al, EJHG, September 18, 2020 (Posted: Sep 21, 2020 9AM)

Barriers and facilitators at the individual-level were organized into the following categories: (1) demographics, (2) knowledge, (3) attitudes and emotional responses. At the interpersonal-level, were categorized as (1) family communication- support- and dynamics. At the environmental-level they related to accessibility of genetic services.

Health economic evaluation of screening and treating children with familial hypercholesterolemia early in life: Many happy returns on investment?
Z Ademi et al, Atherosclerosis, May 20, 2020 (Posted: May 25, 2020 9AM)

Undiscounted results showed that compared with usual care, cascade screening of ten year-old children for FH and initiation of treatment of affected individuals saved 7.77 LYG and 7.53 QALYs per person over a lifetime. The cascade screening of ten year-old children for FH and initiation of treatment compared to usual case was a cost saving approach.

Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia?
Brandts Julia et al. Current opinion in lipidology 2020 Apr (Posted: Apr 29, 2020 7AM)

Through genetic testing, a mutation is found in 60-80% of cases with a clinical diagnosis of definite familial hypercholesterolemia. As individuals with a polygenic basis do not follow the same inheritance pattern observed in monogenic familial hypercholesterolemia, cascade screening in individuals with a polygenic origin is not recommended.

The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure
FH Menko et al, EJHG, April 16, 2020 (Posted: Apr 17, 2020 9AM)

Factors complicated cascade screening included family members living abroad, probands not wanting to share information and limited pedigree information. The standard proband-mediated procedure of informing relatives seems to be far from optimal. We suggest a tailored approach, including the option of a direct approach to at-risk relatives by the geneticist.

Implementation Research to Improve Case Finding, Cascade Screening, and Treatment for Familial Hypercholesterolemia
NHLBI funding announcement, April 2020 Brand (Posted: Apr 16, 2020 0PM)

This is to support applications that develop innovative strategies for accelerating the uptake and sustainment of evidence-based detection, diagnosis, and treatment of familial hypercholesterolemia: explore barriers and facilitators to implementing case finding and cascade screening; and study adoption, sustainability, and scalability of programs.

Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening.
Schwiter Rachel et al. Journal of genetic counseling 2020 Mar (Posted: Apr 01, 2020 9AM)

Fifty-eight percent of U.S. index cases (11/19, 57.9%) and all international index cases (8/8, 100%) indicated willingness to provide contact information for certain at-risk relatives to a HCP for the purpose of directly informing relatives of their risk for FH in a hypothetical scenario.

Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry.
Gidding Samuel S et al. Journal of clinical lipidology 2020 Feb (Posted: Mar 11, 2020 9AM)

Barriers to genetic testing and subsequent family cascade screening for familial hypercholesterolemia (FH) include cost, patient and provider awareness, privacy and discrimination concerns, need for a physician order, underutilization of genetic counselors, and family concerns about the implications of genetic testing for care.

Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling.
Frey Melissa K et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jan JCO1902005 (Posted: Jan 15, 2020 8AM)

Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening.
Offit Kenneth et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jan JCO1902010 (Posted: Jan 15, 2020 8AM)

Assessing relatives' readiness for hereditary cancer cascade genetic testing.
Bednar Erica M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec (Posted: Jan 02, 2020 10AM)

How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population.
Marleen van den Heuvel Lieke et al. Journal of genetic counseling 2019 Dec (Posted: Jan 02, 2020 9AM)

The uptake of predictive DNA testing in families with a hereditary disease is <50%. Current practice often relies on the proband to inform relatives. To enable informed decision-making concerning predictive DNA testing, this study investigated the preferences of patients, relatives, and the general population.

Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
Griffin Natalie E et al. Gynecologic oncology 2019 Nov (Posted: Dec 04, 2019 10AM)

Cascade genetic testing (CGT) of hereditary breast and ovarian cancer (HBOC) or Lynch Syndrome (LS) patients' relatives offers opportunities to prevent cancer, but CGT rates are not well described. We aimed to measure reported disclosure of genetic testing results and CGT rates in these families and evaluate patients' views of educational media.

Making The Case For Cascade Screening Amongst Families With Inherited Heart Diseases.
Ingles Jodie et al. Heart rhythm 2019 Jul (Posted: Jul 17, 2019 8AM)

Genetic Testing and Cascade Screening in Pediatric Long QT Syndrome and Hypertrophic Cardiomyopathy.
Knight Linda M et al. Heart rhythm 2019 Jun (Posted: Jun 26, 2019 8AM)

The efficacy of cascade screening for the inherited heart conditions long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) is incompletely characterized. This study examined the use of genetic testing and yield of cascade screening across diverse regions in the US, and evaluated obstacles to screening in multipayor systems.

Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees
LM van den Heuvel et al, EUr J Hum Genetics, May 3, 2019 (Posted: May 04, 2019 7PM)

"It would be so much easier": health system-led genetic risk notification-feasibility and acceptability of cascade screening in an integrated system.
Henrikson Nora B et al. Journal of community genetics 2019 Mar (Posted: Mar 12, 2019 10AM)

Traceback Testing: Increasing Identification and Genetic Counseling of Mutation Carriers through Family-based Outreach
NCI, Funding announcement, 2019 Brand (Posted: Mar 11, 2019 10AM)

Reverse Cascade Screening for Familial Hypercholesterolemia.
Vinson Amelia et al. Journal of pediatric nursing 4450-55 (Posted: Jan 30, 2019 10AM)

Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop.
Nikolaidis Christos et al. Public health genomics 2019 Jan 1-12 (Posted: Jan 30, 2019 9AM)

A Privacy Work-Around for Hereditary Cancer Testing
N Mulcahe, Medscape, September 25, 2018 (Posted: Sep 28, 2018 11AM)

Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
Caswell-Jin Jennifer L et al. Journal of the National Cancer Institute 2018 Sep (Posted: Sep 26, 2018 10AM)

Design of a Controlled Trial of Cascade Screening for Hypercholesterolemia: The (CASH) Study.
Kullo Iftikhar J et al. Journal of personalized medicine 2018 Aug 8(3) (Posted: Aug 29, 2018 10AM)

Do More Genetic Testing for Familial High Cholesterol —Expert panel makes recommendations on cascade screening, specific genes to test
C Phend, Medpage Today, July 30, 2018 (Posted: Jul 31, 2018 1PM)

Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world?
WD Dotson et al, CDC Blog Post, May 8, 2018 (Posted: May 08, 2018 5PM)

Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature
MC Roberts et al, Health Affairs, May 2018 (Posted: May 08, 2018 8AM)

The Power of Cascade Testing and How Genetic Counselors Can Help
AC Sturm, NSGC blog, Apr 2018 (Posted: Apr 28, 2018 1PM)

How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review
R Schwiter et al. Curr Genet Med Rep, Apr 2018 (Posted: Apr 24, 2018 9AM)

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.
Knowles Joshua W et al. JAMA 2017 07 (4) 381-382 (Posted: Jan 31, 2018 9AM)

First data from the German cascade screening program for familial hypercholesterolemia - care high.
Schmidt Nina et al. Atherosclerosis 2017 Aug 263e233-e234 (Posted: Jan 31, 2018 9AM)

Reverse cascade screening for familial hypercholesterolemia in high-risk Chinese families.
Wu Xue et al. Clinical cardiology 2017 Nov (Posted: Nov 29, 2017 9AM)

CaRe high - Cascade screening and registry for high cholesterol in Germany.
Schmidt Nina et al. Atherosclerosis. Supplements 2017 Nov 3072-76 (Posted: Nov 08, 2017 9AM)

Cascade screening for familial hypercholesterolemia: Practical consequences.
Louter Leonora et al. Atherosclerosis. Supplements 2017 Nov 3077-85 (Posted: Nov 08, 2017 9AM)

Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol.
Katapodi Maria C et al. JMIR research protocols 2017 Sep 6(9) e184 (Posted: Sep 27, 2017 10AM)

Cascade Screening for Familial Hypercholesterolemia in the United States: Public Health Impact and Challenges
JW Knowles et al, CDC Blog, July 25, 2017 Brand (Posted: Jul 26, 2017 8AM)

Long-Term Cardiovascular Risk in Heterozygous Familial Hypercholesterolemia Relatives Identified by Cascade Screening
Kasper Aalbæk Kjærgaard, et al, JAHA June 26, 2017 (Posted: Jun 29, 2017 1PM)

Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia
P Lazaro et al., J Clin Lipidology, February 2017. (Posted: Feb 15, 2017 10AM)

Examining barriers to cascade screening for familial hypercholesterolemia in the United States.
Andersen Rolf et al. Journal of clinical lipidology 10(2) 225-7 (Posted: Apr 13, 2016 11AM)

Communicating risk with relatives in a familial hypercholesterolemia cascade screening program: a summary of the evidence.
Allison Melanie et al. The Journal of cardiovascular nursing 30(4) E1-E12 (Posted: Mar 23, 2016 10AM)

Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
Chandrasekara C H W M R Bhagya et al. PloS one 2015 10(12) e0145537 (Posted: Dec 29, 2015 11AM)

Cascade screening of familial hypercholesterolemia must go on.
Galema-Boers J M H et al. Atherosclerosis 2015 Jul 11. 242(2) 415-417 (Posted: Aug 19, 2015 0PM)

From genetic counseling in individuals to cascade screening in populations: An emerging role for public health practice
Brand (Posted: Feb 25, 2015 0PM)

Cascade screening for Familial Hypercholesterolemia
Brand (Posted: Feb 25, 2015 0PM)


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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