Technological developments are making it possible to read a person’s entire genetic code, or genome, more rapidly and at a lower cost than ever before. Personal genome sequencing is allowing scientists and doctors to better understand the connections between genes and human health, improve medical care and help extend people’s lives. As the cost of genetic analysis decreases and research advances, it is becoming increasingly possible to include a person’s genetic make-up in the repertoire of tools that inform his or her healthcare. The growing field of personal genetics is at the intersection of science and society; it is both an exploration into the complex interactions through which our genes and our environment influence our physical, mental and behavioral states as well as an on-going conversation on the meaning for individuals and society.

Individuals carry a unique set of variations in their DNA sequence, affecting their outward appearance, their behavior and, from a medical standpoint, their susceptibility to disease. Some of this variation is not yet well understood. As more and more people are sequenced, scientists will generate larger sets of data from which to learn about the poorly understood regions of the genome and their functions, including relationships to diseases. Ultimately, the application of genomic information could enhance our ability to make informed and appropriate decisions regarding health care, including, for example, the treatment of specific diseases or predispositions and the choice of drugs and drug dosage.

What are the benefits and implications of personal genetics?

There are many reasons people choose to learn about their genetic makeup. Some people decide to get their genome analyzed so they can take steps to try to prevent a disease for which they are at increased risk, such as heart disease or diabetes, or to learn how their genetic make-up might influence the effectiveness of certain drugs. People who learn that they will likely develop a disease with no cure might opt to buy long-term care or disability insurance, write a will, name a healthcare proxy or take other steps to plan for the future. Some may decide to become activists and educators or engage in research studies. Others might decide not to have biological children or to use preimplantation genetic diagnosis (PGD), a reproductive technology for screening embryos created by in vitro fertilization (IVF), in an effort to avoid passing on a genetic disorder.

The potential benefits of personal genetics in medicine are tremendous. Nevertheless, there are scientific, societal and individual challenges as well. A number of questions may be considered, such as:

• How do we integrate information about the effects of genes with a person’s environmental factors into a meaningful assessment of a person’s disease risks?
• What do we do with genetic information that does not lead to clear medical action for treatment or prevention?
• Since biological relatives share portions of their DNA, should individuals seek permission from their family members before getting genetic tests?
• How can we ensure that everyone who wants it can access his or her genetic information?
• Whether, or how, should genetic information influence employment decisions? How about insurance?
• Would genetic screening of embryos alter individual and societal acceptance of disability and human genetic variation?

 

Related lesson plans:

Introduction to personal genetics

Scientific themes in personal genetics

 

Read more:

Carl Zimmer, “Game of Genomes” (STAT, July 2016)

Laura Landro, “Why Knowing your Genetic Data can be a Tricky Proposition” (The Wall Street Journal, June 2016)

Jody Allard, “How Gene Testing Forced Me to Reveal My Private Health Information” (Vice, May 2016)

Emily Mullin, “What do you do when you have one of the rarest diseases around?” (Washington Post, February 2016)

Seth Mnookin, “One of a Kind” (The New Yorker, July 2014)

Angelina Jolie, “My Medical Choice” (New York Times, May 2013)

Erika Check Hayden, “Genome Study Solves Twins Mystery Condition” (Nature, June 2011)

Mary Carmichael, “DNA Dilemma: Should I Take a Genetic Test?” (Newsweek, August 2010)