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1.
J Genet Couns ; 28(4): 869-877, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31058406

RESUMO

Genetic counseling careers continue to evolve, yet there remains a lack of information about hiring trends in the genetic counseling profession. In this study, job advertisements in the United States and Canada were analyzed, using the National Society of Genetic Counselors (NSGC) Job Connections and the American Board of Genetic Counseling (ABGC) eBlasts from 2014 to 2016 to appraise job roles, qualifications, settings, specialties, and type. NSGC had 1875 advertised openings from 2014 to 2016, while ABGC had 373 advertised openings. Jobs containing a "counseling" role increased as a percentage from 2014 to 2016 when advertised by NSGC (χ2  = 25.52, p < 0.000001) but decreased each year from 2014 to 2016 as a percentage when advertised through ABGC (χ2  = 14.29, p = 0.0008). In the ABGC job postings, it was noted that 36% of job postings were advertised for other specialties (not solely cancer, pediatric, or prenatal) in 2014, and increased to 67% in 2016 (χ2  = 10.09, p = 0.02). Examining the job specialties posted by ABGC and NSGC, several new or unique roles were found in the job advertisements such as ophthalmology counselor, variant curator, rare diseases information specialist, and clinical policy analyst. Roles for temporary, contract or fellowship positions are possibly becoming more common, along with small upturns in positions that are off-site or remote. In analyzing the changing workforce, there was a statistically significant decrease identified in jobs advertised by NSGC in the laboratory setting from 28% in 2014 to 17% in 2016 (χ2  = 24.12, p = 0.000024). This information on the evolving career of genetic counseling is valuable for the current workforce and training programs as they adapt with the changing landscape of the profession.

2.
Pediatr Rev ; 39(7): 323-331, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29967077

RESUMO

Genetic counseling is a communication process whereby an individual or family obtains information about a genetic condition, is helped to understand the implications and significance of the condition, and is given resources to help with coping and management. It is a continuous process involving lasting supportive relationships between the family and the genetic professional. Genetic counselors are master's level-trained health-care professionals who work closely with pediatricians and pediatric subspecialists alike. Genetic counselors can be a source of information about genetic conditions, risk assessment for disease, and genetic testing. Although most of a genetic counselor's job is patient care and education, genetic counselors also serve as resources to educate health professionals about genetics.


Assuntos
Aconselhamento Genético , Pediatria , Criança , Conselheiros , Testes Genéticos/métodos , Genética Médica/métodos , Humanos
3.
Am J Med Genet A ; 176(4): 925-935, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29436146

RESUMO

SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in-depth phenotypic characterization or genotype-phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing. In this series we present the most comprehensive phenotypic and genotypic characterization of SAS to date, including prevalence of each clinical feature, neurodevelopmental milestones, and when available, patient management. We confirm that the most distinctive features are neurodevelopmental delay with invariably severely limited speech, abnormalities of the palate (cleft or high-arched), dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. This comprehensive clinical characterization will help clinicians with the diagnosis, counseling and management of SAS and help provide families with anticipatory guidance.

4.
J Genet Couns ; 27(4): 814-822, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29350312

RESUMO

Genetic counselors (GCs) have reported an increase in discussion of insurance-related, or "genesurance," topics during genetic counseling sessions. Despite increasing frequency, there have been no studies examining patient expectations of GCs in these discussions. This study aimed to explore patient expectations of GCs in these discussions, as well as examine factors that may impact expectations. A 38-item survey was administered prior to patients receiving prenatal or cancer genetic counseling at 11 clinic sites across UTHealth, Baylor College of Medicine, and Sanford Health, with 360 responses analyzed. Key variables were analyzed using descriptive statistics, chi-square analysis, and multivariate logistic regression to assess associations between factors and control for potential confounders. Over 75% of patients expected GCs to discuss genesurance topics during a genetic counseling session. The majority of patients (78%) expected GCs to provide an estimated out-of-pocket cost, know if a test is a covered benefit (77%), and provide referral information for further questions (76%). Two additional expectations, considered to be unrealistic in most clinical settings, included expecting GCs to know the patient's specific insurance plan and coverage information (57%) and provide an exact out-of-pocket cost (41%). Ethnicity was the only significant predictor of response for these two expectations, as African Americans and Hispanics were more likely than Caucasians to have these beliefs. While the patient participants felt that GCs were primarily responsible for initiating these conversations, they also reported a personal sense of responsibility for raising questions. This study demonstrates that patients may expect GCs to address genesurance topics in a genetic counseling session, with specific expectations about the cost and coverage of genetic tests. Further studies will establish the most effective way to communicate this information to patients and examine whether and where within the scope of GC practice, genesurance discussions fall.

5.
J Genet Couns ; 27(4): 800-813, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29204809

RESUMO

While traditional components of genetic counseling sessions are well recognized, less is known about insurance and financial discussions. This study sought to examine "genesurance counseling" which we defined as: that portion of a genetic counseling session, whether intentional or non-intentional, that is devoted to the topic of costs and insurance/third party coverage (particularly for genetic testing). Our objective was to assess genetic counselors' practices and perspective related to genesurance counseling. A survey link was sent by e-mail to members of the National Society of Genetic Counselors (approximately 3100 NSGC members). A total of 571 genetic counselors participated in the survey of which 550 identified as clinical genetic counselors. Survey data were used to investigate differences between specialties, impact on patient rapport, changes in practice dynamics, and devotion of clinic time. Overwhelmingly, 99% of participants acknowledged conducting genesurance counseling, 87% believed it to be part of their job description, and 85% viewed it as an important aspect of genetic counseling. On average, respondents estimated they devoted 10% of their session, or 6 min, to genesurance counseling. Of the surveyed participants, 95% reported genesurance counseling as having some form of influence in a patient's decision regarding genetic testing, and 74% stated that genesurance counseling concerns change the practice and dynamic of their clinic. "Genesurance counseling" is not a topic which has been studied to date. Our study highlights the changes in genetic counselors' roles and responsibilities regarding insurance and financial counseling.

6.
J Genet Couns ; 27(1): 140-154, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28831644

RESUMO

In-person genetic counseling clinics in rural areas are likely to improve access to genetic counseling in underserved regions, but studies have not previously examined how these clinics function or described the experience of practicing in a rural setting. The present mixed-methods study explored the professional experiences of clinical genetic counselors who practice in rural areas, including the benefits and challenges of practicing in these settings and the counselors' motivations for doing so. The authors surveyed 20 genetic counselors who self-reported working in rural areas and conducted interviews with six individuals whose workplaces were confirmed as rural per RUCA code. Major obstacles to the provision of genetics services in rural areas included travel distance and low referral rates due to lack of awareness or skepticism. Facilitating factors included relying on resources such as professional networks and prioritizing outreach and education. Participants reported high professional satisfaction and were motivated to work in rural areas by personal experiences and qualities of the job such as being a generalist and having greater professional autonomy. These data demonstrate the feasibility of practicing in rural settings and suggest that in-person rural genetic counseling clinics may complement other strategies such as alternative service delivery models in increasing access for rural residents.

7.
Am J Hum Genet ; 101(5): 664-685, 2017 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-29100083

RESUMO

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequencing in another series of individuals with DEE and by mining various sequencing datasets. We also performed meta-analyses to document enrichment of DNMs in candidate genes by leveraging our WGS dataset with those of several DEE and ID series. By combining these strategies, we were able to provide a causal link between DEE and the following genes: NTRK2, GABRB2, CLTC, DHDDS, NUS1, RAB11A, GABBR2, and SNAP25. Overall, we established a molecular diagnosis in 63/197 (32%) individuals in our WGS series. The main cause of DEE in these individuals was de novo point mutations (53/63 solved cases), followed by inherited mutations (6/63 solved cases) and de novo CNVs (4/63 solved cases). De novo missense variants explained a larger proportion of individuals in our series than in other series that were primarily ascertained because of ID. Moreover, these DNMs were more frequently recurrent than those identified in ID series. These observations indicate that the genetic landscape of DEE might be different from that of ID without epilepsy.


Assuntos
Encefalopatias/genética , Epilepsia/genética , Mutação/genética , Criança , Pré-Escolar , Feminino , Genoma Humano/genética , Estudo de Associação Genômica Ampla/métodos , Humanos , Deficiência Intelectual/genética , Masculino , Recidiva , Convulsões/genética
8.
S D Med ; 70(11): 505-509, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29088522

RESUMO

Uniparental disomy (UPD), where two copies of genetic material are from one parent, and none from the other, is a familiar cause of imprinting. We present a premature infant with organomegaly and congenital hyperinsulinism found to have complete UPD of paternal origin as determined by Mendelian inheritance error analysis.

9.
J Genet Couns ; 26(6): 1238-1243, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28451876

RESUMO

The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity. Genetic counseling was provided to families 95.8% of the time and in 68.6% of cases by a genetic counselor. Genetic testing was performed on 68.0% of subjects, with usage highest for fatty-acid-oxidation disorders (85.1%). The rate of consanguinity was 2.38%. Within this large national collaborative there is a high frequency of genetic counseling, though in one-third of cases a genetic counselor has not been involved. Additionally, while metabolic conditions have historically been diagnosed biochemically, there is currently high utilization of molecular testing suggesting DNA testing is being incorporated into diagnostic assessments - especially for fatty-acid-oxidation disorders where the underlying genotype helps predict clinical presentation.


Assuntos
Consanguinidade , Aconselhamento Genético/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal/estatística & dados numéricos , Humanos , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/genética
10.
J Genet Couns ; 26(4): 852-858, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28181058

RESUMO

Reimbursement for genetic counseling services was examined at a single institution. Patient encounters utilizing the 96040 CPT® code from 7/31/2009 through 7/31/2013 were reviewed. Exclusion criteria included billing records of patients seen by a physician the same day, self-pay, Medicaid, and Medicare patients. Of the 8,630 encounters with a genetic counselor, 582 encounters were eligible for review. Descriptive statistics (i.e., percentage of encounters receiving some level of reimbursement, average reimbursement rate, number of third party payors providing any level of reimbursement, and number of ICD-9 codes receiving any level of reimbursement) depicted reimbursement of the 96040 CPT® code for the encounters analyzed. Statistical analysis found a significant difference in reimbursement between third party payors that do and do not credential genetic counselors (p < .0001). There was no statistically significant difference between reimbursement rates for primary diagnostic ICD-9 codes when compared to primary diagnostic ICD-9 V codes used. Results will provide a useful baseline for local and national comparisons due to the paucity of data regarding CPT® 96040.


Assuntos
Aconselhamento Genético/economia , Reembolso de Seguro de Saúde/economia , Classificação Internacional de Doenças/economia , Humanos , Estados Unidos
11.
Am J Med Genet A ; 167A(5): 1026-32, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25885067

RESUMO

The SATB2-associated syndrome (SAS) was recently proposed as a clinically recognizable syndrome that results from deleterious alterations of the SATB2 gene in humans. Although interstitial deletions at 2q33 encompassing SATB2, either alone or contiguously with other genes, have been reported before, there is limited literature regarding intragenic mutations of this gene and the resulting phenotype. We describe five patients in whom whole exome sequencing identified five unique de novo mutations in the SATB2 gene (one splice site, one frameshift, and three nonsense mutations). The five patients had overlapping features that support the characteristic features of the SAS: intellectual disability with limited speech development and craniofacial abnormalities including cleft palate, dysmorphic features, and dental abnormalities. Furthermore, Patient 1 also had features not previously described that represent an expansion of the phenotype. Osteopenia was seen in two of the patients, suggesting that this finding could be added to the list of distinctive findings. We provide supporting evidence that analysis for deletions or point mutations in SATB2 should be considered in children with intellectual disability and severely impaired speech, cleft or high palate, teeth abnormalities, and osteopenia.


Assuntos
Anormalidades Craniofaciais/genética , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/genética , Proteínas de Ligação à Região de Interação com a Matriz/genética , Fatores de Transcrição/genética , Adulto , Criança , Pré-Escolar , Cromossomos Humanos Par 2/genética , Fissura Palatina/genética , Fissura Palatina/fisiopatologia , Códon sem Sentido/genética , Anormalidades Craniofaciais/fisiopatologia , Exoma/genética , Feminino , Mutação da Fase de Leitura/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino
12.
S D Med ; 67(4): 141-3, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24791375

RESUMO

Maple syrup urine disease (MSUD) is an organic acidemia detected on newborn screening. The condition has been reported with increased frequency in certain founder populations including Hutterites. We present a case of MSUD in a Hutterite boy. Mutation analysis was completed and identified a candidate founder mutation in the BCKDHB gene, specifically c.595_596delAG. Further testing of other Hutterites with MSUD is needed to determine whether additional mutations may exist.


Assuntos
3-Metil-2-Oxobutanoato Desidrogenase (Lipoamida)/genética , Grupos Étnicos , Efeito Fundador , Doença da Urina de Xarope de Bordo/genética , Análise Mutacional de DNA , Humanos , Recém-Nascido , Masculino , Doença da Urina de Xarope de Bordo/diagnóstico , Doença da Urina de Xarope de Bordo/etnologia , Linhagem
13.
Am J Hum Genet ; 94(4): 547-58, 2014 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-24656866

RESUMO

Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal survival. Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres. Whole-exome sequencing of individuals from each family independently identified compound-heterozygous mutations in QARS as the only candidate causative variants. QARS was highly expressed in the developing fetal human cerebral cortex in many cell types. The four QARS mutations altered highly conserved amino acids, and the aminoacylation activity of QARS was significantly impaired in mutant cell lines. Variants p.Gly45Val and p.Tyr57His were located in the N-terminal domain required for QARS interaction with proteins in the multisynthetase complex and potentially with glutamine tRNA, and recombinant QARS proteins bearing either substitution showed an over 10-fold reduction in aminoacylation activity. Conversely, variants p.Arg403Trp and p.Arg515Trp, each occurring in a different family, were located in the catalytic core and completely disrupted QARS aminoacylation activity in vitro. Furthermore, p.Arg403Trp and p.Arg515Trp rendered QARS less soluble, and p.Arg403Trp disrupted QARS-RARS (arginyl-tRNA synthetase 1) interaction. In zebrafish, homozygous qars loss of function caused decreased brain and eye size and extensive cell death in the brain. Our results highlight the importance of QARS during brain development and that epilepsy due to impairment of QARS activity is unusually severe in comparison to other aminoacyl-tRNA synthetase disorders.


Assuntos
Aminoacil-tRNA Sintetases/genética , Encefalopatias/genética , Predisposição Genética para Doença , Microcefalia/genética , Mutação , Convulsões/genética , Aminoacilação , Animais , Pré-Escolar , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Microcefalia/patologia , Linhagem , Peixe-Zebra
14.
Am J Med Genet A ; 164A(5): 1268-71, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24478262

RESUMO

Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance. Subsequent genetic testing demonstrated a 97 kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2. This is the first reported case of CNPAS in siblings, both males, sharing a maternally inherited Xp22.2 deletion.


Assuntos
Albinismo Ocular/genética , Deleção Cromossômica , Cromossomos Humanos X , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Nariz/anormalidades , Mapeamento Cromossômico , Proteínas do Olho/genética , Facies , Humanos , Lactente , Masculino , Glicoproteínas de Membrana/genética , Nariz/diagnóstico por imagem , Irmãos , Tomografia Computadorizada por Raios X , Transducina/genética
15.
S D Med ; 65(6): 221-3, 225, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22856010

RESUMO

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive condition having significant clinical overlap with trisomy 18. Though rare in the general population, it is quite common in the Hutterites of the United States and Canada. The carrier frequency in the Hutterite population is estimated to be one in 10, making BCS one of the most commonly inherited genetic diseases in any human group studied to date. We describe two infant patients who were initially thought to have trisomy 18, but for whom chromosome studies were normal. Additionally, we briefly review the historical background of the Anabaptist Hutterite populations in South Dakota, compare the clinical findings in BCS and trisomy 18 and discuss the importance of genetic counseling for couples of Hutterite descent.


Assuntos
Cromossomos Humanos Par 18 , Retardo do Crescimento Fetal/diagnóstico , Transtornos Psicomotores/diagnóstico , Trissomia/diagnóstico , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Masculino , Religião
16.
Artigo em Inglês | MEDLINE | ID: mdl-22325475

RESUMO

We review 3 cases where array comparative genomic hybridization made a difference in the medical management of the patient, ended the diagnostic odyssey, predicted prognosis for the patient, and/or provided closure to the family. Comparative genomic hybridization is a useful tool for testing individuals with clinical examinations suggestive of a genetic syndrome but in which a specific syndrome may be difficult to pinpoint. The cost is similar to that of a standard karyotype but there is a higher yield in children and adults with clinical signs of a genetic syndrome.


Assuntos
Acrocefalossindactilia/diagnóstico , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 2 , Cromossomos Humanos Par 7 , Hibridização Genômica Comparativa , Deleção de Genes , Síndrome de Rett/diagnóstico , Acrocefalossindactilia/genética , Adolescente , Adulto , Pré-Escolar , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 1/genética , Hibridização Genômica Comparativa/métodos , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariótipo , Masculino , Síndrome de Rett/genética
17.
Am J Hum Genet ; 90(1): 133-41, 2012 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-22209245

RESUMO

The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. We present clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3. NRXN3 deletions were found in one father with subclinical autism and in a carrier mother and father without formal ASD diagnoses, indicating issues of penetrance and expressivity at this locus. Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Deleção de Genes , Loci Gênicos , Proteínas do Tecido Nervoso/genética , Adolescente , Adulto , Criança , Pré-Escolar , Cromossomos Humanos Par 14/genética , Variações do Número de Cópias de DNA , Feminino , Humanos , Masculino , Linhagem , Penetrância , Adulto Jovem
18.
S D Med ; Spec No: 12-5, 17, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21717811

RESUMO

Obesity risk is amplified in the presence of obese relatives yet does not usually follow classic Mendelian inheritance patterns. A combination of gene mutations, deletions and single nucleotide polymorphisms are all known to contribute to obesity. Most cases are polygenic, the result of multiple genes interacting with a changing environment. Each "obesity gene" only makes a small contribution to phenotype, but collectively, inherited genetic variations play a major role in determining body mass and how the body responds to physical activity and nutrition. While obesity is most commonly associated with polygenic inheritance, there are other instances in which the cause is monogenic or syndromic. Monogenic obesity typically is caused by a single gene mutation with severe obesity as the main symptom. Syndromic obesity, on the other hand, has many characteristics, of which obesity is one symptom.


Assuntos
Obesidade/genética , Síndrome de Bardet-Biedl/genética , Aberrações Cromossômicas , Humanos , Polimorfismo de Nucleotídeo Único/fisiologia , Síndrome de Prader-Willi/genética , Ganho de Peso/genética
19.
S D Med ; 64(4): 125-7, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21560994

RESUMO

Standard two-dimensional ultrasound has been used to aid prenatal visualization and detection of anomalies for the past 60 years. Three-dimensional ultrasound, introduced in the 1980s, provides the additional capability of examining the in utero environment from a variety of different angles. Use of this technology in conjunction with standard two-dimensional ultrasound can lead to a more thorough evaluation of structural defects and a greater patient understanding of genetic conditions.


Assuntos
Acrocefalossindactilia/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Imagem Tridimensional , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Humanos , Masculino , Pais/educação , Pais/psicologia , Gravidez , Gravidez Múltipla , Gêmeos
20.
S D Med ; Spec No: 16-22, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20397487

RESUMO

Knowledge of cancer genetics is advancing our biological understanding of breast, colon, prostate and lung cancers. A family history of any one of these four types of cancer can increase an individual's personal risk to also develop a malignancy. For some families, genetic testing, in combination with genetic counseling, can be a helpful way to identify a hereditary cancer predisposition gene or establish a cancer risk management plan. In this paper, we will review the current state of knowledge surrounding genetic factors influencing breast, colon, prostate and lung cancer.


Assuntos
Neoplasias da Mama/genética , Neoplasias Colorretais/genética , Neoplasias Pulmonares/genética , Neoplasias da Próstata/genética , Feminino , Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos , Humanos , Masculino , Medição de Risco , Fatores de Risco
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