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What is Genetic Counseling?

时间:2018-04-20 15:56:34 阅读数:0

As medicine enters the genomic age, information gleaned from genetic testing is being used to diagnose, treat and even help prevent disease.

But while it provides answers, genetic testing also presents a host of complicated questions. Even geneticists are not always able to fully characterize the significance of a mutation or deletion in a person’s genome. And patients themselves can face a dizzying array of information that requires interpretation and explanation. That’s where genetic counseling comes in – to help people understand the implications of getting tested and their results.

Genetic counseling emerged as a profession in the late 1960s and was employed mainly to screen prospective parents and newborns for inherited diseases like Tay-Sachs.[1] The first master’s degree program in genetic counseling was launched in 1969, and, today, in order to become a certified genetic counselor, an individual must complete this two-year degree and pass an exam.[2]

Genetic counselors, who act as coaches, translators and advocates, have an understanding of genetics and counseling and enter the field from a variety of disciplines, including nursing, biology, public health and social work.

In practice, these professionals provide information and support to families undergoing testing, whether they have genetic disorders, are at risk for inherited conditions, or are making their way along a complicated path to diagnosis.

geneticcounseling.pngGenetic counseling is particularly important when testing for progressive, untreatable diseases such as Huntington’s or Alzheimer’s. In fact, a critical function of genetic counseling is helping patients understand the implications of knowing their genetic status so they can decide whether or not they even want to be tested.

Genetic counseling also can play a vital role for those with rare diseases, who spend an average of five years in search of a diagnosis.[3] While physical health and family history are the most important factors in diagnosing a rare disease, genetic testing can be a key component since 80 percent of rare diseases are genetic in origin.[4]

For families affected by rare diseases, genetic counselors do more than confirm a diagnosis. They help navigate insurance coverage and explain the implications of the diagnosis. They also connect families to additional resources and to other families with the same disease.

In recent years, genetic counseling has become increasingly important as interest in clinical genomics has grown and the number of available tests has exploded. Currently, the Genetic Testing Registry, a centralized database launched by the National Institutes of Health in 2012, lists nearly 35,000 tests for more than 10,000 conditions.

Experts predict that the amount spent on genetic testing will be $25 billion by 2021, compared with $5 billion in 2016. And while the number of genetic counselors has grown 75 percent in the last nine years, the number of counselors still can’t keep up with the demand for their services.[5]

As medicine continues to become more personalized, with genetic information helping guide clinical decision-making and precision medicine initiatives, the need for genetic counselors will continue to grow. They will be more deeply embedded in a wide range of medical settings, detecting risk for disease, informing strategies for maintaining health, and determining which medicines will work best with a person’s genetic makeup.


  1. http://www.npr.org/sections/health-shots/2016/04/18/473066953/more-people-seek-genetic-testing-but-there-arent-enough-counselors

  2. http://www.abgc.net/Certification/become_a_genetic_counselor.asp

  3. https://globalgenes.org/raredaily/accurate-diagnosis-of-rare-diseases-remains-difficult-despite-strong-physician-interest/

  4. https://globalgenes.org/rare-diseases-facts-statistics/

  5. http://www.forbes.com/sites/arleneweintraub/2016/05/25/genetic-tests-for-heart-and-brain-risk-exist-but-how-useful-are-they/#3688b9fa3a8a