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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrié A, Cuchel M, de Ferranti SD, Defesche JC, Freiberger T, Hershberger RE, Hovingh GK, Karayan L, Kastelein JJP, Kindt I, Lane SR, Leigh SE, Linton MF, Mata P, Neal WA, Nordestgaard BG, Santos RD, Harada-Shiba M, Sijbrands EJ, Stitziel NO, Yamashita S, Wilemon KA, Ledbetter DH, Rader DJ, Convened by the Familial Hypercholesterolemia Foundation
(2018) J Am Coll Cardiol 72: 662-680
MeSH Terms: Apolipoproteins B, Expert Testimony, Genetic Counseling, Genetic Testing, Humans, Hyperlipoproteinemia Type II, Proprotein Convertase 9, Receptors, LDL
Show Abstract · Added April 10, 2019
Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.
Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
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8 MeSH Terms
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E
(2015) Hum Mutat 36: 1113-27
MeSH Terms: Animals, Bone Morphogenetic Protein Receptors, Type II, Disease Models, Animal, Genetic Association Studies, Genetic Counseling, Genetic Predisposition to Disease, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Hypertension, Pulmonary, Multigene Family, Mutation, Signal Transduction, Transforming Growth Factor beta
Show Abstract · Added February 21, 2017
Pulmonary arterial hypertension (PAH) is an often fatal disorder resulting from several causes including heterogeneous genetic defects. While mutations in the bone morphogenetic protein receptor type II (BMPR2) gene are the single most common causal factor for hereditary cases, pathogenic mutations have been observed in approximately 25% of idiopathic PAH patients without a prior family history of disease. Additional defects of the transforming growth factor beta pathway have been implicated in disease pathogenesis. Specifically, studies have confirmed activin A receptor type II-like 1 (ACVRL1), endoglin (ENG), and members of the SMAD family as contributing to PAH both with and without associated clinical phenotypes. Most recently, next-generation sequencing has identified novel, rare genetic variation implicated in the PAH disease spectrum. Of importance, several identified genetic factors converge on related pathways and provide significant insight into the development, maintenance, and pathogenetic transformation of the pulmonary vascular bed. Together, these analyses represent the largest comprehensive compilation of BMPR2 and associated genetic risk factors for PAH, comprising known and novel variation. Additionally, with the inclusion of an allelic series of locus-specific variation in BMPR2, these data provide a key resource in data interpretation and development of contemporary therapeutic and diagnostic tools.
© 2015 WILEY PERIODICALS, INC.
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14 MeSH Terms
Heritable forms of pulmonary arterial hypertension.
Austin ED, Loyd JE
(2013) Semin Respir Crit Care Med 34: 568-80
MeSH Terms: Activin Receptors, Type II, Antigens, CD, Bone Morphogenetic Protein Receptors, Type II, Caveolin 1, Endoglin, Familial Primary Pulmonary Hypertension, Female, Gene-Environment Interaction, Genetic Counseling, Genetic Testing, Germ-Line Mutation, Humans, Hypertension, Pulmonary, Male, Nerve Tissue Proteins, Penetrance, Potassium Channels, Tandem Pore Domain, Pregnancy, Preimplantation Diagnosis, Receptors, Cell Surface, Sex Distribution, TGF-beta Superfamily Proteins
Show Abstract · Added March 20, 2014
Tremendous progress has been made in understanding the genetics of heritable pulmonary arterial hypertension (HPAH) since its description in the 1950s. Germline mutations in the gene coding bone morphogenetic receptor type 2 (BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH). Recent advancements in gene sequencing methods have facilitated the discovery of additional genes with mutations among those with and without familial PAH (CAV1, KCNK3). HPAH is an autosomal dominant disease characterized by reduced penetrance, variable expressivity, and female predominance. These characteristics suggest that genetic and nongenetic factors modify disease expression, highlighting areas of active investigation. The reduced penetrance makes genetic counseling complex, as the majority of carriers of PAH-related mutations will never be diagnosed with the disease. This issue is increasingly important, as clinical testing for BMPR2 and other mutations is now available for the evaluation of patients and their at-risk kin. The possibilities to avoid mutation transmission, such as the rapidly advancing field of preimplantation genetic testing, highlight the need for all clinicians to understand the genetic features of PAH risk.
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
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22 MeSH Terms
Exploring the perceptions and the role of genetic counselors in the emerging field of perinatal palliative care.
Wool C, Dudek M
(2013) J Genet Couns 22: 533-43
MeSH Terms: Cross-Sectional Studies, Genetic Counseling, Humans, Palliative Care, Professional Role, Workforce
Show Abstract · Added February 16, 2017
Perinatal palliative care is a collaborative model of providing care to fetuses diagnosed with life-limiting conditions along with supportive care to parents. The study explored perceptions and current practice trends of genetic counselors related to this care. An ethics framework was used to structure the study. This cross-sectional, mixed method study was conducted to illuminate perceptions, practice barriers, familiarity with perinatal palliative care, clinician comfort, and referral comfort. The Perinatal Palliative Care Perceptions and Barriers Scale was self-administered online to 212 genetic counselors. Hierarchical multiple regression, used to test the hypothesis that perceptions, barriers to PPC, years of experience, personal comfort and prior familiarity with PPC explain variation in comfort of referral to PPC, yielded a significant overall R (2) of .51. These findings are the first data describing genetic counselors' perspectives and some of the factors contributing to referral comfort. Genetic counselors broadly endorsed the importance of palliative care concepts. They varied in their comfort with referral practices in ways that may be mitigated by increasing their familiarity with this evolving model of care.
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6 MeSH Terms
Leveraging the electronic health record to implement genomic medicine.
Kullo IJ, Jarvik GP, Manolio TA, Williams MS, Roden DM
(2013) Genet Med 15: 270-1
MeSH Terms: Electronic Health Records, Genetic Counseling, Genetics, Medical, Genomics, Health Personnel, Humans, Medical Informatics, Patient Education as Topic, Research, Workforce
Added June 26, 2014
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10 MeSH Terms
Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta.
Marchington D, Malik S, Banerjee A, Turner K, Samuels D, Macaulay V, Oakeshott P, Fratter C, Kennedy S, Poulton J
(2010) J Med Genet 47: 257-61
MeSH Terms: Adult, Child, Preschool, DNA, Mitochondrial, Female, Genetic Counseling, Germ-Line Mutation, Humans, Infant, Leigh Disease, Microsatellite Repeats, Mitochondrial Diseases, Oocytes, Placenta, Polymerase Chain Reaction, Pregnancy
Show Abstract · Added May 27, 2014
BACKGROUND - Families with a child who died of severe, maternally inherited mitochondrial DNA (mtDNA) disease need information on recurrence risk. Estimating this risk is difficult because of (a) heteroplasmy-the coexistence of mutant and normal mtDNA in the same person-and (b) the so-called mitochondrial bottleneck, whereby the small number of mtDNAs that become the founders for the offspring cause variation in dose of mutant mtDNA. The timing of the bottleneck and of segregation of mtDNA during foetal life determines the management options. Therefore, mtDNA heteroplasmy was studied in oocytes and placenta of women in affected families.
RESULTS - One mother of a child dying from Leigh syndrome due to the 9176T-->C mtDNA mutation transmitted various loads of mutant mtDNA to < or =3 of 20 oocytes. This was used to estimate recurrence as < or =5%. She subsequently conceived a healthy son naturally. Analysis of the placenta showed that some segregation also occurred during placental development, with the mutant mtDNA load varying by >10% in a placenta carrying 65% 3243A-->G mutant mtDNA.
DISCUSSION - This is the first report of (a) an oocyte analysis for preconception counselling, specifically, refining recurrence risks of rare mutations and (b) a widely different load of a pathogenic mtDNA mutation in multiple oocytes, apparently confined to the germline, in an asymptomatic carrier of an mtDNA disease. This suggests that a major component of the bottleneck occurs during oogenesis, probably early in the foetal life of the mother. The variable mutant load in placenta implies that estimates based on a single sample in prenatal diagnosis of mtDNA disorders have limited accuracy.
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15 MeSH Terms
Genetics of pulmonary arterial hypertension.
Austin ED, Loyd JE, Phillips JA
(2009) Semin Respir Crit Care Med 30: 386-98
MeSH Terms: Bone Morphogenetic Protein Receptors, Type II, Female, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Humans, Hypertension, Pulmonary, Male, Sex Factors
Show Abstract · Added March 5, 2014
Tremendous progress has been made in understanding the genetics of hereditable pulmonary arterial hypertension (HPAH) since its description in the 1950s. Germline mutations in the gene coding bone morphogenetic receptor type 2 ( BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH). HPAH is an autosomal dominant disease characterized by reduced penetrance, variable expressivity, female predominance, and genetic anticipation. These characteristics suggest that endogenous and exogenous factors modify disease expression and areas of emphasis for future investigation. The variable clinical expression makes genetic counseling complex because the majority of carriers of a BMPR2 mutation will not be diagnosed with the disease. This issue will become increasingly important, as clinical testing for BMPR2 mutations is now available for the evaluation of patients and family members with HPAH and IPAH.
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10 MeSH Terms
Genetics and genomics of pulmonary arterial hypertension.
Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA, Soubrier F, Trembath RC, Chung WK
(2009) J Am Coll Cardiol 54: S32-S42
MeSH Terms: Bone Morphogenetic Protein Receptors, Type II, Frameshift Mutation, Genetic Counseling, Genetic Predisposition to Disease, Humans, Hypertension, Pulmonary, Mutation, Missense, Open Reading Frames, Signal Transduction, Transforming Growth Factor beta
Show Abstract · Added March 5, 2014
Pulmonary arterial hypertension (PAH) is a rare disorder that may be hereditable (HPAH), idiopathic (IPAH), or associated with either drug-toxin exposures or other medical conditions. Familial cases have long been recognized and are usually due to mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2), or, much less commonly, 2 other members of the transforming growth factor-beta superfamily, activin-like kinase-type 1 (ALK1) and endoglin (ENG), which are associated with hereditary hemorrhagic telangiectasia. In addition, approximately 20% of patients with IPAH carry mutations in BMPR2. We provide a summary of BMPR2 mutations associated with HPAH, most of which are unique to each family and are presumed to result in loss of function. We review the finding of missense variants and variants of unknown significance in BMPR2 in IPAH/HPAH, fenfluramine exposure, and PAH associated with congenital heart disease. Clinical testing for BMPR2 mutations is available and may be offered to HPAH and IPAH patients but should be preceded by genetic counseling, since lifetime penetrance is only 10% to 20%, and there are currently no known effective preventative measures. Identification of a familial mutation can be valuable in reproductive planning and identifying family members who are not mutation carriers and thus will not require lifelong surveillance. With advances in genomic technology and with international collaborative efforts, genome-wide association studies will be conducted to identify additional genes for HPAH, genetic modifiers for BMPR2 penetrance and genetic susceptibility to IPAH. In addition, collaborative studies of BMPR2 mutation carriers should enable identification of environmental modifiers, biomarkers for disease development and progression, and surrogate markers for efficacy end points in clinical drug development, thereby providing an invaluable resource for trials of PAH prevention.
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10 MeSH Terms
Genetic counseling, testing, and screening for breast and ovarian cancer: practical and social considerations.
Khabele D, Runowicz CD
(2002) Curr Womens Health Rep 2: 163-9
MeSH Terms: Breast Neoplasms, Female, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Health Knowledge, Attitudes, Practice, Health Policy, Humans, Ovarian Neoplasms, Physician's Role, Risk Assessment, Risk Factors, Women's Health
Show Abstract · Added March 5, 2014
Breast and ovarian cancer are complex diseases that develop from multiple genetic alterations. In an era of genomics and advancing technologies, scientific knowledge regarding specific mechanisms of cancer development is evolving rapidly. In this context, identifying women with hereditary breast or ovarian cancer syndrome is becoming more complicated. Cancer genetic counselors must convey new scientific information, accurately assess cancer risk, and offer available options for genetic testing and medical interventions when there are still more questions than definitive answers.
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13 MeSH Terms
Genetic testing of children and adolescents: ethical, legal and psychosocial implications.
Martinez W
(1998) Princet J Bioeth 1: 65-75
MeSH Terms: Adolescent, Adoption, Child, Decision Making, Disclosure, Genetic Counseling, Genetic Testing, Heterozygote, Humans, Huntington Disease, Informed Consent, Jurisprudence, Mental Competency, Parent-Child Relations, Parental Consent, Parents, Prejudice, Reproduction, Risk, Risk Assessment, Self Concept, Stress, Psychological, Third-Party Consent
Added May 26, 2017
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23 MeSH Terms