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Patient Genetic Testing/Carrier Screening

Patient Genetic Testing/Carrier Screening

Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. A carrier for a genetic disorder has inherited one normal and one abnormal allele for a gene associated with the disorder. A child must inherit two abnormal alleles in order for symptoms to appear. Prospective parents with a family history of a genetic disorders are candidates for carrier screening.

Learn more from scientific experts about Top Issues In Genetics /Patient Genetic Testing/Carrier Screening at NHGRI's Talking Glossary

Materials for Patient Genetic Testing/Carrier Screening


Biology Animation Library - GeneChips

Description: Animation of GeneChips technology

Cycle Sequencing

Description: An animation of DNA sequencing

DNA Sequencing - The Sanger Method

Description: Find out about the most commonly used method of sequencing DNA: the dideoxy or chain-termination method, which was developed by Fred Sanger in 1977 (and for which he won his second Nobel Prize).

How to Sequence a Genome

Description: Animations on genome sequencing


Case Study in Lethal Diseases and Autonomy

Description: Should expectant couples undergo prenatal testing for serious conditions that won't manifest until adulthood?

DNA Sequencing - The 454 Method

Description: Watch or download this animation on 454 machines, which are able to read one gigabase of DNA sequence in a couple of days, at a cost of $0.02 per 1000 bases.

DNA Sequencing - The Illumina Method

Description: Illumina sequences DNA around 20 times cheaper than the 454 technology - $0.001 per 1000 bases - and taking just half a day to read one gigabase.

Genetic Testing

Description: A brief description of genetic testing with an extensive list of links that provide further information on this topic

Genome-Wide ssociation studies

Description: Genome-wide association studies have led to the discovery of hundreds of genes with a role in common diseases.

Genomic Testing

Description: Information on genomic testing and an inititive called, EGAPP, to improve oversight of genomic tests

How Do You Find Out the Significance of a Genome After Sequencing?

Description: We have sequenced the genome, put it back together and identified the genes, but now we need to find out what this genome can tell us and how it compares to other genomes.

How Is Pharmacogenomics Being Used?

Description: In a small number of cases, doctors are able to use pharmacogenomics in their treatment of patients.

Implications & Ethics: Understanding Diseases and Genetic Tests

Description: A short overview on the ways human genetic information is being used in the biomedical field

Newborn Genetic Screening

Description: Fact sheet and video on newborn genetic screening

Patient Genetic Testing

Description: An overview of genetic testing and information on the regulation of genetic tests

Personal Genomics: The Future of Healthcare?

Description: Personal genomics is an area of genomics focusing specifically on the sequencing and analysis of one person’s genome, and then giving them their genomic information.

Pharmacogenomics and Cancer

Description: Pharmacogenomics is a specific kind of genetic testing that offers key advantages for doctors trying to choose the best drugs for their patients.

What advances are being made in DNA sequencing?

Description: An article on next-generation, whole exome, and whole genome sequencing

What is Genetic Testing?

Description: Information on genetic testing

What Is Genetic Testing?

Description: Genetic testing is an incredibly useful tool for identifying changes or mutations in DNA that could lead to genetic disease.

When Should We All Have Our Genomes Sequenced?

Description: Opinions regarding the role of genomic screening and how testing contributes to improved health


DNA Sequencing Game, Interactive 2D Animation

Description: A short game on DNA sequencing

Interactive Tutorials

Sickle Cell DNA

Description: Learn about Sickle Cell disease and help with DNA testing and genetic counseling of a virtual couple. A Teacher's Guide for incorporating the activity in a High School classroom is provided.

Teacher Resources

Creating Genetic Counselor Pamphlets (Lesson Plans/Lesson Activities)

Description: After discussing the benefits and potential misuses of prenatal genetic testing, students in grades 9-12 research a particular genetic disorder and then create pamphlets about the disorder from a genetic counselor's point of view.

Debating the Ethical and Legal Implications of Genetic Testing (PDF 904.59 KB, Lesson Plans/Lesson Activities)

Description: Students explore the difference between ethical and legal issues and use an analytical framework to work through an ethical scenario before researching and debating two genetic testing scenarios. Additional chapters from DNA: Promise and Peril (McCabe, Linda L. and McCabe, Edward R.B. Regents of the University of California Press, 2008.) provide a starting point for their research.

Direct-to-Consumer Genetic Testing (Lesson Plans/Lesson Activities)

Description: This lesson provides students the opportunity to explore the excitement and challenges related to the direct-to-consumer (DTC) genetic testing industry. How do consumers react to genetic information gleaned from DTC services? What information can be learned through a DTC test, and do consumers need or want a doctor or genetic counselor to access this information?

Ethics and Reproductive Issues - The Dilemma of Choice (Lesson Plans/Lesson Activities)

Description: This lesson introduces students to the ethical implications of using our growing knowledge about the human genome to improve our personal and public health.

Genetic Disease Webquest (Lesson Plans/Lesson Activities)

Description: A game perfect for the classroom. Your students become members of an elite medical investigation team, called into action because of a high number of mysterious infant deaths in a remote community in New Mexico. It is unclear whether the deaths are a result of an infectious disease or an inherited gene. As part of the investigation, your students must determine the cause of the deaths and what can be done to save the lives of other children in this community.

Genetic Testing - Protecting Health or Denying Rights? (Lesson Plans/Lesson Activities)

Description: Case scenario and discussion questions on genetic testing

Genetic Testing: Road Map or Crystal Ball? (Lesson Plans/Lesson Activities)

Description: Students are exposed to the pros and cons of genetic testing and must take a stand by writing a position paper, after viewing the "Who Gets to Know?" video and/or reading case studies from the Our Genes/Our Choices series.

Genetics and Reproduction (Lesson Plans/Lesson Activities)

Description: This lesson addresses the genetic reproductive technologies that are being used by individuals who, for a variety of reasons, wish to know and/or have some choice about the genetic makeup of their children. It begins with a discussion of the technologies that can reveal the genetic makeup of fetuses and then moves on to a technology called preimplantation genetic diagnosis (PGD). The goal of this lesson is to give students an opportunity to discuss many aspects of PGD such that they become aware of the diversity of opinions surrounding PGD.

Personalized Medicine (Lesson Plans/Lesson Activities)

Description: Personalized medicine, also referred to as precision medicine, holds great promise to improve healthcare. As the cost of genetic analysis decreases and research advances, it is becoming increasingly possible to include the genetic make-up of a person in the repertoire of tools that inform his or her healthcare. This lesson asks students to delve into the hopes and challenges of personalized medicine and to consider the practical applications of genetic analysis in medicine.

Personalized Medicine (aka Pharmacogenomics) (Lesson Plans/Lesson Activities)

Description: In this teaching module students will learn about the concept of personalized medicine; how differences in our genes affect whether a drug treatment will be successful or have serious side effects, and how we can use this information to customize treatments for individual patients. Students will participate in a hands-on activity to further demonstrate how subtle genetic differences affect a patients response to medication.

The Probabilities of Problems: A Look at Inheritance (Lesson Plans/Lesson Activities)

Description: Students learn how to calculate the the probabilities of passing on certain genetic disorders and then evaluate case studies involving genetic testing.


Molecular Basis of Heredity: Part 4. Gene Identification and Tests

Description: Raye Lynn Alford, PhD, discusses processes of gene identification for purposes of disease research through specialized technologies and tests.

The Burden of Knowing

Description: Genetic tests reveal important information that could help save lives. But the knowledge comes with a cost, both to individuals struggling with life-altering decisions and to their families, who must also confront their genetic destiny.