Podcast
Questions and Answers
What is the most common type of chromosomal abnormality?
What is the most common type of chromosomal abnormality?
Aneuploidy.
What is the most widespread use of genetic testing?
What is the most widespread use of genetic testing?
Newborn screening.
The American College of Medical Genetics (ACMG) recommends a panel of $29$ genetic conditions for newbornscreening.
The American College of Medical Genetics (ACMG) recommends a panel of $29$ genetic conditions for newbornscreening.
True
Which of these are examples of genetic conditions that may be caused by larger mutations in chromosomes? (Select all that apply)
Which of these are examples of genetic conditions that may be caused by larger mutations in chromosomes? (Select all that apply)
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What is the most common type of chromosomal abnormality in newborns?
What is the most common type of chromosomal abnormality in newborns?
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What are the five basic modes of inheritance for single-gene diseases? (Select all that apply)
What are the five basic modes of inheritance for single-gene diseases? (Select all that apply)
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What does a genotype refer to in genetics?
What does a genotype refer to in genetics?
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What is the primary focus of pharmacogenetics?
What is the primary focus of pharmacogenetics?
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The "gene for" phrase suggests that multiple genes are associated with one specific trait.
The "gene for" phrase suggests that multiple genes are associated with one specific trait.
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What does the acronym ELSI stand for?
What does the acronym ELSI stand for?
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Why may the term "Cultural Competency" be misleading?
Why may the term "Cultural Competency" be misleading?
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What does the acronym NCHPEG stand for?
What does the acronym NCHPEG stand for?
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What is the primary focus of the NCHPEG's principles for health professionals?
What is the primary focus of the NCHPEG's principles for health professionals?
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The NCHPEG's principles for health professionals have a section related to patient care.
The NCHPEG's principles for health professionals have a section related to patient care.
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The NCHPEG's principles for health professionals have a section related to biological variation.
The NCHPEG's principles for health professionals have a section related to biological variation.
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The NCHPEG's principles for health professionals have a section related to the environment.
The NCHPEG's principles for health professionals have a section related to the environment.
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The NCHPEG's principles for health professionals have a section related to cell biology.
The NCHPEG's principles for health professionals have a section related to cell biology.
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The NCHPEG's principles for health professionals have a section related to classical (Mendelian) genetics.
The NCHPEG's principles for health professionals have a section related to classical (Mendelian) genetics.
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The NCHPEG's principles for health professionals have a section related to molecular genetics.
The NCHPEG's principles for health professionals have a section related to molecular genetics.
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The NCHPEG's principles for health professionals have a section related to development.
The NCHPEG's principles for health professionals have a section related to development.
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The NCHPEG's principles for health professionals have a section related to new genetic technology.
The NCHPEG's principles for health professionals have a section related to new genetic technology.
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The CDC's Genomic Competencies for All Public Health Professionals and Clinicians, includes a section on genomics in clinical services.
The CDC's Genomic Competencies for All Public Health Professionals and Clinicians, includes a section on genomics in clinical services.
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What organization is responsible for producing Making Sense of Your Genes: A Guide to Genetic Counseling?
What organization is responsible for producing Making Sense of Your Genes: A Guide to Genetic Counseling?
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What organization is responsible for producing Core Competencies in Genetics Essential for All Health-Care Professionals?
What organization is responsible for producing Core Competencies in Genetics Essential for All Health-Care Professionals?
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What organization is responsible for producing Genomics Competencies for the Public Health Workforce?
What organization is responsible for producing Genomics Competencies for the Public Health Workforce?
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Study Notes
Introduction
- This is a New York - Mid-Atlantic guide for patients and health professionals on understanding genetics, produced by a partnership between Genetic Alliance and NYMAC.
Project Staff
- Project Director: Amelia Chappelle, MA, MS
- Associate Director of Genetics Resources and Services: Amelia Chappelle, MA, MS
- Executive Editor: Sharon F. Terry, MA
- President and CEO, Genetic Alliance: Sharon F. Terry, MA
- Lead Planner/Genomics: Beverly C. Burke, MSW
- Genetic Alliance Project Staff: Kurt Christensen, MPH, Amy Garrison, Intern, Alice Hawkins, MS, MPH, Hanaa Rifaey, MA, Elizabeth Terry, Michelle Waite, Lisa Wise, Susanne B. Haga, PhD, Judith Benkendorf, MS, CGC, Joann Boughman, PhD, Siobhan M. Dolan, MD, MPH, Luba Djurdjinovic, MS, W. Andrew Faucett, MS, CGC, Nancy Green, MD, Maggie Hoffman, Dale Halsey Lea, MPH, RN, CGC, FAAN, Michele A. Lloyd-Puryear, MD, PhD, Joan O. Weiss, MSW, ACSW, Kenneth A. Pass, PhD, Louis E. Bartoshesky, MD, MPH, MALS, Katharine B. Harris, MBA
- NYMAC Project Director: Katharine B. Harris, MBA
- NYMAC Project Coordinator: Bonnie L. Fredrick, MS
- NYMAC Patient and Family Coordinator: Kate Tullis, PhD
Table of Contents
- The guide covers genetics 101, diagnosis of genetic disease, taking a family history, newborn screening, genetic counseling, indications for genetic referrals, and the psychological and social implications of these topics.
- Specific topics examined in different chapters include cells, genomes, DNA, and genes; types of genetic disease; laws of inheritance; genetic variation; history and physical examination; red flags for genetic disease; uses of genetic testing; pedigree and family history taking; importance of family history; how to take a family medical history; pedigrees; newborn screening; screening procedure and follow-up; retesting; clinical evaluation and diagnostic testing; treatment; newborn screening programs; newborn hearing screening; screening procedure; retesting; treatment; genetic counseling; role of genetic counseling; process of genetic counseling; patient education; indications for genetic referral; family history; delayed growth and development; reproductive issues; psychological and social implications; impact of a genetic diagnosis; patient stories and consumer profiles.
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