Related Experiment Video

Updated: May 5, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

40.0K

Genetic services and attitudes in primary care pediatrics

Michael L Rinke1, Natalie Mikat-Stevens, Robert Saul

  • 1Department of Pediatrics, Children's Hospital at Montefiore, Bronx, New York.

American Journal of Medical Genetics. Part A
|November 21, 2013
PubMed

Insights

Primary care pediatricians (PCPs) rarely order genetic tests and often lack confidence in providing genetic care. Electronic health records also hinder comprehensive family history collection for children with genetic conditions.

Area of Science:

  • Pediatrics
  • Genetics
  • Genomics
  • Primary Care Medicine

Background:

  • Primary care pediatricians (PCPs) are crucial for managing children with genetic conditions.
  • Current practices, attitudes, and family history-taking methods of PCPs regarding genetic care are not well understood.

Purpose of the Study:

  • To assess PCPs' current practices with genetic patients.
  • To understand PCPs' attitudes toward genetic medical care.
  • To evaluate PCPs' family history-taking choices for genetic patients.

Main Methods:

  • An online survey was distributed to a national convenience sample of PCPs.
  • Eighty-eight PCPs associated with the American Academy of Pediatrics' Quality Improvement Innovation Networks responded.
  • Data on genetic test ordering, discussions, perceived competence, and family history practices were collected.

Main Results:

  • 86% of PCPs ordered genetic tests three or fewer times annually.
  • Only 13% frequently discussed genetic test risks/benefits/limitations.
  • 49% felt competent in genetics/genomics care, unrelated to training or patient volume.
  • 31% gathered three-generation family histories; EHRs often poorly supported this.
  • PCPs noted care variations and a majority lacked confidence in genetic care.

Conclusions:

  • Significant gaps exist in PCPs' genetic testing frequency, patient counseling, and perceived competence.
  • Challenges in electronic health record (EHR) systems impede thorough family history documentation.
  • Further research and enhanced integration of genetic medicine into primary care are essential for improving diagnosis and care for children with genetic disorders.

Keywords:
electronic health recordfamily historygeneticspediatricsprimary care

More Related Videos

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.4K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

9.2K

Related Concept Videos

Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.5K
Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...
2.0K
Primary Healthcare Services01:30

Primary Healthcare Services

Primary care promotes wellness and prevents disease. This care includes health promotion, education, protection (such as immunizations), early disease screening, and environmental considerations. Settings providing this type of healthcare include physician offices, public health clinics, school nursing, and community health nursing.
In 1978, international leaders convened in Alma-Ata, Kazakhstan, for what would be a pivotal event in global health. The Alma-Ata Declaration was the first to call...
3.3K
Genetic Screens02:46

Genetic Screens

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
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.6K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
30.4K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
19.1K