Practical Aspects of Genetic Counseling: Genetic Tests to Identify Risks

AbstractIdentification of congenital skeletal abnormalities is complex because of the large variety of individual syndromes and dysplasias that are often difficult to remember. Although a correct diagnosis relies on a combination of clinical, radiologic, and genetic tests, imaging plays an important role in selecting those patients who should be referred for further genetic counseling and expensive genetic tests. In addition to information derived from radiologic analysis of other skeletal elements, radiographs of the hand and wrist may provide particular useful information. In the first part of this article, we provide a guide for a systematic radiologic analysis of the hand and wrist bones that may help characterize congenital and developmental diseases. Special attention is given to the use of correct terminology. In the second part, we discuss typical examples of congenital and developmental diseases involving the hand and wrist, with an emphasis on skeletal dysplasias.

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Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran

International Journal of Reproductive BioMedicine ◽

10.18502/ijrm.v17i8.4819 ◽

2019 ◽

Cited By ~ 1

Author(s):

Mohammad Bagher Hashemi-Soteh ◽

Ali Vali Nejad ◽

Golamreza Ataei ◽

Dariush Ghasemi ◽

Rita Siamy

Keyword(s):

Genetic Counseling ◽

Genetic Testing ◽

Genetic Diseases ◽

Cross Sectional Study ◽

Or Education ◽

Genetic Tests ◽

Northern Iran ◽

Cross Sectional ◽

Hereditary Disorders ◽

Knowledge And Attitude

Background: Genetic testing has been widely introduced for many hereditary disorders. While the attitudes towards these facilities have been evaluated in many countries, there are only a few reports on the knowledge of and the orientation among Iranians. Objective: The current study assesses the attitudes and knowledge of pre-marriage individuals toward the availability and use of genetic tests. Materials and Methods: A comprehensive questionnaire was distributed among 408 marrying individuals. The questions addressed the demographic characteristics along the registration of participant’s knowledge, education, and attitude toward genetic testing. The individuals were divided into three groups based on their knowledge: 1) Scored above 80 to 100 were defined as “good” 2) 60 to 80 as “average” 3) less than 60 as “poor” knowledge. Result: Most participants (86%) believed consanguineous marriages increase the risk of genetic diseases; 82.3% knew that thalassemia is a type of genetic disease, only 33.3% could distinguish prenatal diagnosis (PND) from other laboratory tests. The relationship between the participants’ knowledge and their level of education was significant (r = 0.78, p < 0.001), age (r =–0.16, p < 0.01), and urbanity (p < 0.01). A prominent relationship was observed between the knowledge (r = 0.64, p < 0.001) or education (r = 0.62, p < 0.001) and people’s desire to use the genetic tests before the wedding ceremony. No significant correlations were found between the participant’s attitude and their ages/urbanity. Most of the individuals agreed to arrange a genetic counseling before marriage (0.94%). Conclusion: This study revealed that most individuals were interested in using genetic counseling services and genetic tests before marriage.

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Invasive Prenatal Diagnosis

10.2310/obg.19130 ◽

2020 ◽

Author(s):

Kimberly Zayhowski

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Genetic Testing ◽

Prenatal Care ◽

Chorionic Villus ◽

Prenatal Testing ◽

Chorionic Villus Sampling ◽

Genetic Tests ◽

Genetic Technologies ◽

Invasive Techniques

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures. This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

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Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

Breast Cancer Research and Treatment ◽

10.1007/s10549-013-2669-9 ◽

2013 ◽

Vol 141 (1) ◽

pp. 135-144 ◽

Cited By ~ 27

Author(s):

P. Pujol ◽

D. Stoppa Lyonnet ◽

T. Frebourg ◽

J. Blin ◽

M. C. Picot ◽

...

Keyword(s):

Genetic Counseling ◽

Genetic Tests ◽

Nationwide Study ◽

Counseling And Testing

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Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility

JCO Precision Oncology ◽

10.1200/po.19.00317 ◽

2020 ◽

pp. 161-169

Author(s):

Madison K. Kilbride ◽

Angela R. Bradbury

Keyword(s):

Genetic Counseling ◽

Genetic Testing ◽

Web Sites ◽

Clinical Laboratory ◽

Cancer Susceptibility ◽

Molecular Technique ◽

Genetic Tests ◽

Comprehensive Overview ◽

Direct To Consumer ◽

Informed Decisions

PURPOSE Recent years have seen direct-to-consumer (DTC) genetic testing for cancer susceptibility change dramatically. For one, a new model now dominates the market where tests are advertised to consumers but ordered by physicians. For another, many of today’s tests are distinguished from earlier DTC offerings for cancer susceptibility by their scope and potential clinical significance. This review provides a comprehensive overview of available DTC genetic tests for cancer susceptibility and identifies aspects of the DTC testing process that could affect consumers’ ability to make informed decisions about testing and understand their results. METHODS First, we provide an overview of each DTC genetic test for cancer susceptibility that includes information about cost; who orders it; whether variants of uncertain significance are returned; availability of genetic counseling; intended users; management of variant reclassifications; whether it is characterized as diagnostic, actionable, and clinically valid; molecular technique used; and Clinical Laboratory Improvement Amendments/College of American Pathologists status. Second, we identify six aspects of the testing process that could affect consumers’ ability to make informed decisions about testing and interpret their results: How companies use certain terms (eg, medical grade or clinical grade); how companies use consumers’ health information during the ordering process; the extent of genetic counseling provided by companies; companies’ procedures for returning results; the role of company-provided ordering physicians; and companies’ procedures for communicating variant reclassifications. RESULTS On the basis of our review of companies’ Web sites, we believe that consumers would benefit from more information about these aspects of testing. CONCLUSION Providing this information would help consumers make informed decisions about whether to use a particular DTC genetic testing service and, should they choose to pursue testing, understand the implications and limitations of their results.

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