Genetic counseling following direct‐to consumer genetic testing: Consumer perspectives
As the use and scope of direct‐to‐consumer genetic testing (DTC GT), also becoming known as consumer‐driven genetic testing, increases, consumers may seek genetic counseling to understand their results and determine healthcare implications. In this study,
Tessa B. Marzulla+5 more
semanticscholar +1 more source
Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children’s Deafness [PDF]
Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the ...
A Middleton+24 more
core +1 more source
Gender Differences in Caring for Children with Genetic or Rare Diseases: A Mixed-Methods Study
As a factor in parenting stress, gender differences in caring for children with genetic or rare diseases warrant research attention; therefore, this study explored gender differences in parenting stress, health outcomes, and illness perceptions among ...
Shao-Yin Chu+2 more
doaj +1 more source
The Global State of the Genetic Counseling Profession
The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years.
M. Abacan+37 more
semanticscholar +1 more source
Hereditary motor-sensory neuropathy (MIM 118200) is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic ...
V. P. Fedotov+5 more
doaj +1 more source
Factors Impacting Adolescent and Young Adult Cancer Patients’ Decision To Pursue Genetic Counseling and Testing [PDF]
Purpose: Adolescent and young adult (AYA) cancer patients face challenges when navigating cancer treatment and survivorship. Many are at risk for cancer predisposition syndromes; however, factors influencing pursuit of genetic counseling and testing have
Bednar, Erica M+7 more
core +2 more sources
Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia [PDF]
Genetic counseling is an evolving field in Saudi Arabia. In 2015, genetic counseling was recognized as a Master's program by the Saudi Commission for Health Specialties.
Al-Zaidan, Hamad+2 more
core +1 more source
A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research
The descriptor ‘usual care’ refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research.
B. Biesecker+16 more
semanticscholar +1 more source
Juvenile Huntingtons disease (JHD) manifests in 1st2nddecades of life and accounts for 29% of all cases ofHuntingtons disease; its pathogenic mechanisms are related togenetic anticipation and imprinting.
G. E. Rudenskaya+5 more
doaj +1 more source
Patient responses to genetic information: Studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice [PDF]
Advances in the genetic basis of kidney disease may mean that genetic testing is increasingly important in reducing disease morbidity and mortality among patients.
Kaphingst, Kimberly A+1 more
core +2 more sources