scholarly journals Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries

2017 ◽  
Vol 5 (6) ◽  
pp. 621-630 ◽  
Author(s):  
Debra S. Regier ◽  
Carlos R. Ferreira ◽  
Suzanne Hart ◽  
Donald W. Hadley ◽  
Maximilian Muenke
Keyword(s):  
United States ◽  
Genetic Counseling ◽  
Newborn Screening ◽  
Genomic Medicine ◽  
The United States ◽  
Medical Genetics ◽  
Counseling Training ◽  
Reproductive Genetics ◽  
Genetic Counseling Training

Assessing the Integration of Genomic Medicine in Genetic Counseling Training Programs

2014 ◽  
Vol 23 (4) ◽  
pp. 679-688 ◽  
Author(s):  
Jessica Profato ◽  
Erynn S. Gordon ◽  
Shannan Dixon ◽  
Andrea Kwan
Keyword(s):  
Genetic Counseling ◽  
Training Programs ◽  
Genomic Medicine ◽  
Counseling Training ◽  
Genetic Counseling Training

Genetic counseling and the role of genetic counselors in the United States

2021 ◽  
Vol 33 (1) ◽  
pp. 29-34
Author(s):  
Christian P. Schaaf
Keyword(s):  
United States ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Genomic Medicine ◽  
The United States ◽  
Genetic Counselors ◽  
Healthcare Team ◽  
Primary Role ◽  
Medical Histories ◽  
The U.S

Abstract Genetic counselors represent an indispensable, well-established, and well-integrated group of healthcare providers in the field of genetic and genomic medicine in the United States. They work with other members of the healthcare team to provide information and support to individuals and families concerned with genetic disorders. With more than 5,000 certified genetic counselors in the U.S. and an expected growth of 100 % over the next decade, genetic counseling represents one of the fastest-growing professions in the U.S. Genetic counselors work in clinical environments (e. g., hospitals), in companies (e. g., genetic testing firms), and as consultants to medical practices and others. Twenty-six states license genetic counselors as practitioners who can bill independently, with licensure applications underway in the remaining 24 states. Physicians, genetic counselors, and diagnosticians represent the three pillars of comprehensive, integrated genomic medical care. Within this triad, genetic counselors see their primary role in procuring and interpreting family and medical histories, assessing inheritance, quantifying chances of recurrence, facilitating decision-making regarding genetic testing options, and explaining the results of such testing to the respective individuals within the greater context of their families.

scholarly journals Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease

2017 ◽  
Vol 5 (4) ◽  
pp. 307-316 ◽  
Author(s):  
Carlos R. Ferreira ◽  
Debra S. Regier ◽  
Donald W. Hadley ◽  
P. Suzanne Hart ◽  
Maximilian Muenke
Keyword(s):  
United States ◽  
United States Of America ◽  
Burden Of Disease ◽  
Genomic Medicine ◽  
The United States ◽  
Medical Genetics

scholarly journals Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy

2020 ◽  
Vol 6 (3) ◽  
pp. 67 ◽  
Author(s):  
Patrice K. Held ◽  
Ian M. Bird ◽  
Natasha L. Heather
Keyword(s):  
United States ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
False Positive ◽  
Primary Care Physicians ◽  
The United States ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Screening Accuracy

Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists.

Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014–2016

2019 ◽  
Author(s):  
Kaitlyn Burns ◽  
Amy Swanson ◽  
Jennifer Hoskovec ◽  
Jennifer Leonhard ◽  
Susan Hahn ◽  
...  
Keyword(s):  
United States ◽  
Genetic Counseling ◽  
The United States ◽  
Job Market ◽  
Job Advertisements

Racial and ethnic differences in genetic counseling experiences and outcomes in the United States: A systematic review

2020 ◽  
Vol 29 (2) ◽  
pp. 147-165
Author(s):  
Sabrina V. Southwick ◽  
Riley Esch ◽  
Rachel Gasser ◽  
Deborah Cragun ◽  
Krista Redlinger‐Grosse ◽  
...  
Keyword(s):  
United States ◽  
Systematic Review ◽  
Genetic Counseling ◽  
Ethnic Differences ◽  
The United States ◽  
Racial And Ethnic Differences

scholarly journals Newborn Screening for SCD in the USA and Canada

2018 ◽  
Vol 4 (4) ◽  
pp. 36 ◽  
Author(s):  
Nura El-Haj ◽  
Carolyn Hoppe
Keyword(s):  
United States ◽  
Newborn Screening ◽  
The United States ◽  
Historical Background ◽  
Current Status ◽  
The Usa ◽  
Abnormal Hemoglobin ◽  
Hb S ◽  
Laboratory Procedures ◽  
Canadian Provinces

Sickle cell disease (SCD) encompasses a group of inherited red cell disorders characterized by an abnormal hemoglobin, Hb S. The most common forms of SCD in the United States and Canada are identified through universal newborn screening (NBS) programs. Now carried out in all fifty U.S. states and 8 Canadian provinces, NBS for SCD represents one of the major public health advances in North America. The current status of NBS programs for hemoglobinopathies and the screening techniques employed in many regions worldwide reflect in large part the U.S. and Canadian experiences. Although the structure, screening algorithms and laboratory procedures, as well as reporting and follow up, vary between NBS programs, the overall workflow is similar. The current review summarized the historical background, current approaches, and methods used to screen newborns for SCD in the United States and Canada.

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