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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Animal Mitochondrial Genetics02:59

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Related Experiment Video

Updated: Jul 16, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Do physicians know when to refer patients for genetic testing?

R John Presutti1, George G A Pujalte1, Amelita Woodruff1

  • 1Department of Family Medicine, Mayo Clinic, Jacksonville, Florida, USA.

Journal of Genetic Counseling
|September 9, 2023
PubMed
Summary

Most primary care physicians (PCPs) do not recognize all recommended family history questions as indicators for genetic testing referrals. Many PCPs also lack adequate genetics training and access to genetic specialists, impacting patient care.

Keywords:
attitudescancergenetic counselinggenetic testinggenomics, physiciansreferral practices

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Area of Science:

  • Genetics
  • Primary Care Medicine
  • Medical Education

Background:

  • Primary care physicians (PCPs) frequently encounter patient genetic concerns but often lack specialized expertise.
  • Current guidelines recommend cancer-related family history questionnaires for genetic testing referrals, followed by genetic counseling.

Purpose of the Study:

  • To assess the extent to which PCPs utilize the American Cancer Society's family history questions as triggers for genetic testing referrals.
  • To identify factors influencing PCP referral decisions for genetic testing.

Main Methods:

  • A cross-sectional study involving 88 PCPs at a national conference.
  • PCPs were presented with seven American Cancer Society family history questions to evaluate their perceived significance for referral.

Main Results:

  • Most PCPs (76-83%) identified only two of the seven questions as referral triggers.
  • Lower percentages (22-55%) recognized the remaining five questions.
  • Few PCPs reported adequate genetics training (3.4%), and only 44.3% had readily available genetics specialists.

Conclusions:

  • PCPs demonstrate limited recognition of standardized family history questions for genetic testing referrals.
  • Inadequate genetics training and limited access to specialists hinder appropriate referrals.
  • Improving PCP education on genetic testing and referral pathways is crucial for optimizing patient access to genetic services.