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Genetic Syndrome

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1. ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

the following considerations in reaffirming this document: 1. To use the phrase “pathogenic variant” rather than the word “mutation” in discussing pathogenic variants related to autosomal dominant early-onset Alzheimer disease. This would be consistent with current ACMG/AMP Guidelines for Variant Interpretation and Reporting 1 . 2. Because this document no longer meets the criteria for an evidence-based practice guideline by either the American College of Medical Genetics and Genomics (ACMG) or National (...) ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors Jill S. Goldman, MS, MPhil 1,2 , Susan E. Hahn, MS 3 , Jennifer Williamson Catania, MS, MPH 1,2 , Susan LaRusse-Eckert, MS 2 , Melissa

2019 American College of Medical Genetics and Genomics

2. Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders

their future health prospects or take better informed lifestyle choices or have better informed reproductive choice. Specific genetic disorders that satisfy these criteria are listed in the 100 000 Genomes Project Protocol and include conditions such as sickle-cell disease, thalassaemia and severe haemophilia but not milder bleeding disorders or thrombotic disorders. 20 Recommendations: 1. Any clinician requesting a DNA test should know what degree of likelihood there is that the test may reveal (...) strategy used should also be made clear. Genetic testing for inherited bleeding disorders is sometimes conducted during childhood and informed consent is taken from a F I G U R E 1 Pedigree of a sporadic case of haemophilia in which genetic testing has not yet been carried out. The maternal aunt (arrowed) is the consultand. The chance of female ancestors carrying the pathogenic variant from observational studies averaged over different family structures is shown as a percentage. The chance in any

2019 United Kingdom Haemophilia Centre Doctors' Organisation

3. AIM Clinical Appropriateness Guidelines for Genetic Testing for Hereditary Cardiac Disease

with an isolated type 2 or 3 Brugada pattern on EKG. In most cases, the primary value of genetic testing for Brugada syndrome is to benefit at-risk family members. Short QT Syndrome Short QT syndrome (SQTS) is a congenital, inherited, primary electric disorder of the heart characterized by abnormally short QT intervals on the surface ECG (<360 ms) and an increased proclivity to develop atrial and/or ventricular tachyarrhythmias (Gussak 2005). SQTS is a genetically heterogeneous disease caused by mutations (...) Appropriate Use Criteria 3 Confirmation/Diagnostic Testing 3 Testing of Asymptomatic Individuals 4 Post-Mortem Testing 4 Long QT 5 Dilated Cardiomyopathy 5 Tests Not Clinically Appropriate 5 CPT Codes 6 Background 6 Rationale for Genetic Counseling for Hereditary Cardiac Conditions 6 Long QT 8 Dilated Cardiomyopathy 8 Hypertrophic Cardiomyopathy 9 Brugada Syndrome 10 Short QT Syndrome 10 Atrial Fibrillation 11 Post-Mortem Testing 11 Professional Society Guidelines 11 Selected References 13 Revision

2019 AIM Specialty Health

4. Clinical Utility Card - Genetic Testing for childhood syndromes

. MSAC acknowledged that childhood genetic syndromes include a clinically and genetically heterogeneous group of disorders, many of which have a high clinical need. Patients and their families desire diagnosis to inform clinical management, prognosis and genetic counselling. MSAC noted that this application is limited to monogenic conditions, which typically have their onset in infancy or early childhood. Individual syndromes usually have a constellation of features including dysmorphic facial (...) appearance, single or multiple congenital anomalies, and variable degrees of intellectual disability. MSAC noted that children must exhibit at least two of these features to be eligible for WEA as proposed. MSAC noted that there is an increasing number of monogenic syndromes that do not satisfy these criteria (e.g. immune disorders). MSAC noted that WEA is a new and rapidly evolving technology. There are more than 15,000 entries in OMIM (a full term list of all genetic conditions and phenotypes

2018 Medical Services Advisory Committee

5. Genetic testing for Alport syndrome

effectiveness, MSAC supported MBS funding of genetic testing for the diagnosis of AS in clinically affected individuals and cascade testing for selected family members of these individuals who are genetically confirmed to have Alport syndrome (probands). MSAC advised that, while the evidence base for genetic testing was limited, there was acceptable evidence of clinical safety and effectiveness, and the financial impact of funding was likely to be low in the context of this rare disease with a well (...) to raise the pre-test clinical suspicion of Alport Syndrome, such as those provided by the Flinter clinical criteria, noting that any such definition would change over time. ESC considered that while the extent of family testing was dependent upon the mode of inheritance, the term ‘relative’ in the item descriptor could be better defined. 16 ESC Key ISSUES ESC ADVICE Fee Unless input based, align with current MBS items 73296 and 73297. Genetic counselling Best practice; suggest include in explanatory

2018 Medical Services Advisory Committee

6. Pegvaliase-pqpz (Palynziq) - To treat adults with a rare and serious genetic disease known as phenylketonuria (PKU)

Pegvaliase-pqpz (Palynziq) - To treat adults with a rare and serious genetic disease known as phenylketonuria (PKU) Drug Approval Package: PALYNZIQ (pegvaliase-pqpz) U.S. Department of Health and Human Services Search FDA Submit search Drug Approval Package: PALYNZIQ (pegvaliase-pqpz) Company: BioMarin Pharmaceutical Inc. Application Number: 761079 Approval Date: 05/24/2018 Persons with disabilities having problems accessing the PDF files below may call (301) 796-3634 for assistance. FDA

2018 FDA - Drug Approval Package

7. AIM Clinical Appropriateness Guidelines for Genetic Testing for Single-Gene and Multifactorial Conditions

Scope This document addresses the general principles of clinical appropriateness for genetic testing, including testing for Mendelian disorders and susceptibility testing for multifactorial conditions. See separate clinical appropriateness guidelines for more specific criteria for testing related to reproductive genetics, hereditary cancer susceptibility, hereditary cardiac disease, pharmacogenetics and thrombophilia, somatic tumor testing, and whole exome sequencing. All tests listed (...) to multifactorial conditions but is not diagnostic. PROPRIETARY Guidelines developed by, and used with permission from, Informed Medical Decisions, Inc. © 2019 Informed Medical Decisions, Inc. All Rights Reserved. 4 Genetic testing for multifactorial diseases is considered medically necessary when all of the following are met: • Patient is at risk for the suspected condition based on personal or family history • Presence of the genetic variant(s) is highly predictive for the development of the multifactorial

2019 AIM Specialty Health

8. AIM Clinical Appropriateness Guidelines for Pharmacogenetic Testing and Genetic Testing for Thrombotic Disorders

environmental and genetic risk factors. Risk factors for VTE include advancing age, travel, surgery, organ transplantation, central venous catheter use, injury, family history of VTE, and certain genetic polymorphisms leading to excessive clotting. In women, pregnancy, hormonal contraceptive use, selective estrogen receptor modulators (SERMs), and hormone replacement therapy (HRT) are additional risk factors for VTE. It has been suggested that genetic testing for inherited thrombophilias may allow (...) as molecular genotyping given that these conditions are almost always caused by a common variant. There have been conflicting recommendations as to how to approach genetic testing for thrombophilias. ACMG and ACOG have recommended testing for F2 and F5 in certain scenarios, while the Evaluation of Genomic Applications and Prevention Working Group (EGAPP) found insufficient evidence to perform this testing for any indication. The population for which F2/F5 genetic testing results have direct implications

2019 AIM Specialty Health

9. Understanding genetic tests for Lynch syndrome

genetic testing for a rare group of cancers called Lynch syndrome. This syndrome is caused by a fault in genetic information resulting in a high risk of bowel cancer and some other cancers. Lynch syndrome was previously known as hereditary non-polyposis colorectal cancer (HNPCC). The information is not a replacement for discussing genetic testing with your doctor or family cancer service. Only some sections might be useful to you. This booklet combined with information from health professionals (...) of developing cancer. 3. Inherited factors We inherit genetic information from our parents and pass it on to our children. Inherited genetic information can play a role in the small number of families with a history of cancer, as occurs with Lynch syndrome.About Lynch syndrome 7 Men with Lynch syndrome are at high risk of developing: large bowel cancer Women with Lynch syndrome are at high risk of developing: large bowel cancer *endometrial cancer ovarian cancer Men and women have an increased risk

2019 European Society of Endocrinology

10. Genetic Syndromes and Gynecologic Implications in Adolescents

are considered safe for most patients with congenital heart disease; however, they should be used with caution in patients with congestive heart failure because of the potential for further fluid retention, which may result in cardiac strain ( ). Menstrual Manipulation A gynecologist may be consulted for menstrual manipulation for adolescents and young women with genetic syndromes. In some individuals with genetic syndromes, a seizure disorder is present; in these cases, menstrual suppression may be used (...) on specific genetic syndromes, the obstetrician–gynecologist may seek subspecialty referral or online information from sources such as the National Institutes of Health’s National Center for Advancing Translational Sciences and National Human Genome Research Institute ( ). In some regions, telemedicine options with subspecialists are emerging. Preventive gynecologic health care needs for patients with a genetic syndrome are similar to those of their peers without a genetic syndrome. Although some genetic

2019 American College of Obstetricians and Gynecologists

11. Adoptive immunotherapy using genetically modified lymphocytes for lymphoproliferative disorders or hematological malignancies

efficacy and safety data. Further, for CAR T cells, there are reports of serious complications, including cytokine release syndrome (CRS) and neurologic toxicities, which can lead to death. Key Questions: Are CAR T cell and genetically engineered TCR T cell therapies effective in treating hematologic cancers and lymphoproliferative disorders? How do CAR T and TCR T cell therapies compare with alternative treatments for hematologic cancers and lymphoproliferative disorders? Are CAR T and TCR T cell (...) Adoptive immunotherapy using genetically modified lymphocytes for lymphoproliferative disorders or hematological malignancies Adoptive immunotherapy using genetically modified lymphocytes for lymphoproliferative disorders or hematological malignancies Adoptive immunotherapy using genetically modified lymphocytes for lymphoproliferative disorders or hematological malignancies HAYES, Inc Record Status This is a bibliographic record of a published health technology assessment from a member

2018 Health Technology Assessment (HTA) Database.

12. Vestronidase alfa-vjbk (Mepsevii) - To treat pediatric and adult patients with an inherited metabolic condition called mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome.

Vestronidase alfa-vjbk (Mepsevii) - To treat pediatric and adult patients with an inherited metabolic condition called mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. Mepsevii (vestronidase alfa-vjbk) Injection U.S. Department of Health and Human Services Search FDA Submit search Mepsevii (vestronidase alfa-vjbk) Injection Mepsevii Company: Ultragenyx Pharmaceutical Inc. Application No.: 761047 Approval Date: 11/15/2017 Persons with disabilities having problems accessing

2018 FDA - Drug Approval Package

13. AIM Clinical Appropriateness Guidelines for Genetic Testing for Hereditary Cardiac Disease

Informed Medical Decisions, Inc. All Rights Reserved. 3 Scope This document addresses genetic testing for inherited arrhythmias and cardiomyopathies. Aortopathies and other connective tissue disorders with cardiac manifestations are NOT included in this document; see Genetic Testing for Single-Gene and Multifactorial Conditions Clinical Appropriateness Guidelines. Appropriate Use Criteria Confirmation/Diagnostic Testing Confirmatory or diagnostic genetic testing for hereditary arrhythmias (...) (2011). Genetic testing is not indicated among persons with an isolated type 2 or 3 Brugada pattern on EKG. In most cases, the primary value of genetic testing for Brugada syndrome is to benefit at-risk family members. Short QT Syndrome Short QT syndrome (SQTS) is a congenital, inherited, primary electric disorder of the heart characterized by abnormally short QT intervals on the surface ECG (<360 ms) and an increased proclivity to develop atrial and/or ventricular tachyarrhythmias (Gussak 2005

2017 AIM Specialty Health

14. Experiences of rare inherited disorders in adults

Experiences of rare inherited disorders in adults Experiences of rare inherited disorders in adults We use cookies on this website. By using this site, you agree that we may store and access cookies on your device. Swedish Agency for Health Technology Assessment and Assessment of Social Services Experiences of rare inherited disorders in adults Share: Reading time approx. 4 minutes In Sweden a disorder is considered rare if less than 100 in one million inhabitants have the disorder or condition (...) . Consideration needs to be given to exploring with individuals what degree of adherence will assist them in maintaining health, yet be able to enjoy life.” Waldboth et al 2016 [4] 17 of 33 studies were qualitative and had one or several participants ≥18 years old Young individuals with a genetic disease (14–30 years old) and his or her family Experiences of families living with a chronic childhood disease during transition into adulthood Authors' conclusion: Young people and their family members experience

2019 Swedish Council on Technology Assessement

15. Common hereditary lysosomal storage diseases

Common hereditary lysosomal storage diseases Common hereditary lysosomal storage diseases - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Common hereditary lysosomal storage diseases Last reviewed: February 2019 Last updated: February 2019 Summary A group of diverse inherited disorders that arise from deficiency of enzymes required for the breakdown of products of intermediary metabolism. Diagnosis depends on a high (...) is strongly advised so that patients and families may be assessed by a multidisciplinary team familiar with the disease. Significant advances in treatment have occurred in recent years such that the outlook for patients has substantially changed. Specific treatments limited to certain subtypes include enzyme replacement therapy, substrate reduction therapy, and stem cell transplantation. Definition Lysosomal storage diseases (LSDs) are due to the inherited deficiency of one of over 40 lysosomal enzymes

2019 BMJ Best Practice

16. Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin Full Text available with Trip Pro

Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin Efficacy of aspirin in primary prevention of cardiovascular disease (CVD) may be influenced by a common allele in guanylate cyclase GUCY1A3, which has been shown to modify platelet function and increase CVD risk.We investigated whether homozygotes of the GUCY1A3 rs7692387 risk (G) allele benefited from aspirin in two long-term, randomized placebo-controlled trials (...) of aspirin in primary CVD prevention: the Women's Genome Health Study (WGHS, N = 23 294) and a myocardial infarction (MI, N = 550) and stroke (N = 382) case-control set from the Physician's Health Study (PHS, N = 22 071). Bleeding risk was evaluated in the WGHS. In the placebo group of the WGHS, the GUCY1A3 risk (G) allele was confirmed to increase CVD risk [hazard ratio 1.38; 95% confidence interval (CI) 1.08-1.78; P = 0.01]. Random-effects meta-analysis of the WGHS and PHS revealed that aspirin reduced

2019 EvidenceUpdates

17. Advances in our understanding of the genetics of childhood neurodevelopmental disorders Full Text available with Trip Pro

Doherty 1 , Miriam Cooper 2 , Anita Thapar 1 Statistics from Altmetric.com Childhood neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and intellectual disability (ID) typically are complex, heterogeneous, conditions that show considerable clinical overlap. 1 There are both genetic and environmental contributions to their aetiology, which are not yet fully elucidated. However, immense progress has been made in our understanding (...) of their genetic basis in the last two decades. This short review aims to synthesise the key findings in this regard, with a focus on some of the factors that are most relevant to clinical practice. Family and twin studies provided the first evidence of the familial aggregation and heritability of childhood neurodevelopmental disorders. For example, the heritability estimate for ADHD is 88% 2 and for ASD it is 64%–91%. 3 Families often want to know the likelihood of having a child with a neurodevelopmental

2018 Evidence-Based Mental Health

18. Autosomal Dominant Polycystic Kidney Disease - Genetics and Genetic Counseling

it is transferred (implanted) into the uterus. Proband: usually the ?rst affected family member who seeks medical attention for a genetic disorder. Risk: “genetic risk” refers to the likelihood or probability that a genetic characteristic or condition will occur or recur in a family, based on an under- standing of the pattern of inheritance. WHAT DO THE OTHER GUIDELINES SAY? Kidney Disease Outcomes Quality Initiative: No recommendation. UK Renal Association: No recommendation. Canadian Society of Nephrology (...) counseling allows them to be more informed of the inheritance of the condition, identi?es those at risk of the condition, and guides them on communicating genetic risks to family members. It can also address many of the genetic psychosocial issues associated with the disease and issues surrounding predictive testing in asymptomatic individuals (adults and children), as well as facilitate discussions and decisions regarding family planning. LINKS The Centre for Genetics Education: http://www

2015 KHA-CARI Guidelines

19. Are genetics link to Polycystic ovarian syndrome in women of reproductive age

paper “The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies” [4] which states: "Familial clustering of PCOS symptoms is well documented, providing evidence for a genetic contribution to the condition ...Overall, the gene loci with the most robust findings were THADA, FSHR, INS-VNTR, and DENND1A, that now require validation. This overview also identified limitations of the current literature and important methodological (...) a document on causes of PCOS [1], this reports: “PCOS sometimes runs in families. If any relatives, such as your mother, sister or aunt, have PCOS, the risk of you developing it is often increased. This suggests there may be a genetic link to PCOS, although specific genes associated with the condition have not yet been identified.” The 2007 paper “The Genetic Basis of the Polycystic Ovary Syndrome: A Literature Review Including Discussion of PPAR-γ” [2] which includes the following in the abstract (note

2019 Trip Community Q&A

20. Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. Full Text available with Trip Pro

Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. To compare prevalent and incident morbidity and mortality between those with the HFE p.C282Y genetic variant (responsible for most hereditary haemochromatosis type 1) and those with no p.C282Y mutations, in a large UK community sample of European descent.Cohort study.22 centres across England, Scotland, and Wales in UK Biobank (2006-10).451 243 volunteers of European descent aged 40 to 70 (...) years, with a mean follow-up of seven years (maximum 9.4 years) through hospital inpatient diagnoses and death certification.Odds ratios and Cox hazard ratios of disease rates between participants with and without the haemochromatosis mutations, adjusted for age, genotyping array type, and genetic principal components. The sexes were analysed separately as morbidity due to iron excess occurs later in women.Of 2890 participants homozygous for p.C282Y (0.6%, or 1 in 156), haemochromatosis

2019 BMJ

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