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Genetic Counseling

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Dysmorphology in a Genomic Era.

Clinics in perinatology
Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...

Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy.

Journal of medical genetics
BACKGROUND: Hereditary colorectal cancer (HCRC) syndromes account for 10% of colorectal cancers but remain underdiagnosed. This feasibility project tested the utility of an artificial intelligence-based chatbot deployed to patients scheduled for colo...

Patient Interactions With an Automated Conversational Agent Delivering Pretest Genetics Education: Descriptive Study.

Journal of medical Internet research
BACKGROUND: Cancer genetic testing to assess an individual's cancer risk and to enable genomics-informed cancer treatment has grown exponentially in the past decade. Because of this continued growth and a shortage of health care workers, there is a n...

The ENGAGE study: evaluation of a conversational virtual agent that provides tailored pre-test genetic education to cancer patients.

Journal of cancer survivorship : research and practice
PURPOSE: Novel approaches are needed to ensure all patients with cancer have access to quality genetic education before genetic testing to enable informed treatment decisions. The purpose of this study was to test the use of an artificial intelligenc...

Preliminary Screening for Hereditary Breast and Ovarian Cancer Using an AI Chatbot as a Genetic Counselor: Clinical Study.

Journal of medical Internet research
BACKGROUND: Hereditary breast and ovarian cancer (HBOC) is a major type of hereditary cancer. Establishing effective screening to identify high-risk individuals for HBOC remains a challenge. We developed a prototype of a chatbot system that uses arti...

[Prophylactic surgery and genetic counselling: What impact of the artificial intelligence?].

Bulletin du cancer
In the area of cancer predisposition, certain situations may lead to the discussion of prophylactic surgery. This is rarely strictly recommended and depends on the patient's choice. The advantages and disadvantages must be weighed up. The main advant...

Generative AI and the profession of genetic counseling.

Journal of genetic counseling
The development of artificial intelligence (AI) including generative large language models (LLMs) and software like ChatGPT is likely to significantly influence existing workforces. Genetic counseling has been identified as a profession likely impact...