There is no absence of patience quite like you experience when you are awaiting results of a test. For high schoolers hoping they passed an exam, and for people like Leah*, who is nervously awaiting to hear the results of a series of genetic tests that may or may not confirm the presence of one or multiple genes predisposed to cancer, the wait is difficult. Leah is 83 years old, a mother to four, and grandmother to eleven. She has experienced two forms of breast cancer personally, and has lost numerous siblings and extended family members to other forms of cancer. She worries if these diseases are a genetic risk that she has passed on to her children and grandchildren.
Genetic testing provides you with first-hand information on one of two topics; ancestry and health history. The mapping of the human genome, a critical dependency to the development of most new genetic health tests, was a scientific breakthrough that was accomplished just 16 years ago. This achievement provided a scientific map of the human genes, thought to be the inheritable ‘instructions’ for the development and function of a human being. This scientific map provided a powerful basis for medical professionals to better understand, treat, prevent, and cure disease. DNA collection is achieved through a variety of methods: blood sample,cheek swab, amniocentesis (prenatal only), chorionic villus sampling (prenatal only). To tailor to their various needs, people have the option of a variety of specialized tests;
- Diagnostic testing: Performed when you are actively displaying symptoms of disease or disorder caused by mutated genes. Testing is completed to confirm or deny it’s presence.
- Presymptomatic or Predictive Testing: Performed when you have a family history of a genetic condition and may be at-risk of developing it. This testing is performed before symptoms are shown.
- Carrier Testing: Performed when you have a family history and/or are part of an ethnic group susceptible to a disease or disorder. This is performed when you yourself are not at risk but are concerned about passing it on to your children.
- Pharmacogenetic Testing: This is performed to find the best type of medicine and dosage for a disease or condition you already have.
- Prenatal Testing: This is performed on a pregnant woman to check the fetus for any gene abnormalities such as Downs Syndrome.
- Newborn Screening: This test is the most common as it is a state-required test nationwide. This is screening all newborns for genetic and metabolic abnormalities. This is important because any required treatment can be started right away for optimal outcomes.
- Preimplantation Testing: This test is used with in vitro fertilization to screen embryos for genetic abnormalities before implantation.
It was in the early 1900’s when doctors first discovered the link between inherited diseases and chromosomes. It wasn’t until later, in the 1950’s, when more discoveries helped to create tests to screen for conditions like Down Syndrome, and Cystic Fibrosis. It was difficult to access as only a few commercial laboratories offered testing and most were just research laboratories. Now, into the 21st century, tests are easily accessed and you can be tested for more than 2000 various conditions, both common and rare.
Since the mapping of the human genome in 2003, a staggering number of new genetic tests have been developed and made available to the market. A study conducted through Concert Genetics via the U.S. National Library of Medicine and the National Institutes of Health, found that more than 75,000 new genetic tests had become available with 14,000 new additions spanning from March of 2014 to August of 2017, with an average of 10 tests becoming available per day.
Understanding what disease or disorder you are at-risk for, or potentially already have, provides you the opportunity to make proactive choices and lifestyle changes. This information can also inform your children of potential inherited risks, or in fact inform your choice to have children. Early determination of genetic conditions affords the opportunity for intervention. To determine if there was reason for concern, Leah met with her primary doctor as well as a genetic counselor to determine the best course of action. The counselor identified 47 genes within Leah that could contain a predisposition to cancer, and then tested all 47.
Genetic testing is not without its own risks and drawbacks. For example, historically, prenatal testing posed a small risk to the pregnancy or the fetus as an invasive test that required collecting samples from inside the uterus. In more recent developments, new testing allows for screening from maternal blood samples without uterin interference. Some side-effects are also emotional, rather than physical. Feeling guilt for passing along the risk of a disorder to children can be damaging, as well as making drastic lifestyle changes to reduce the risk. There is also the psychological weight of knowing you are at-risk or have a disorder but no amount of change can affect the outcome.
As more new tests become available every day, they fall into a large range of price; costing anywhere from under $100 to more than $2000. Because there is no FDA approval requirement for bringing a new test to market, there aren’t many of the barriers and regulation that constrain other new medical developments. Some health insurers cover the cost of select genetic tests, but it is difficult for insurers to develop a sustainable, affordable approach amidst rising availability and demand for testing. It is predicted to be a $7.7 billion market by 2020.
Some forms of insurance covers some genetic testing but many people choose to pay for it entirely on their own because findings could potentially impact your access to long-term care or life insurance. When receiving testing, a client can’t come in with a list of dozens of conditions and disorders that they’ve read about and want to guarantee they don’t have. You’re not going to be tested for something that hasn’t been diagnosed somewhere else in your family history.
Many counter-arguments focus on the emotional damage component of genetic testing where knowledge is not always power. There are many variables that are included in the cost, such as the quality of the test and what kind of testing you’re having done. Because of the price, these tests are much more easily accessed by people with greater means, which disadvantages many others. The cost-benefit analysis is a huge factor for many people with lesser means, is it worth cutting corners and spending months saving up for expensive testing only to be told there’s a negative outcome that can’t be affected by anything you do? The healthcare industry struggles to keep up with administrative overhead necessary to evaluate and/or cover the ever increasing volume of tests.
Leah was relieved when the results of her testing showed that all 47 genes returned negative, and she did not pass on the risk to her family. She decided no adjustments were necessary for her lifestyle, and that the testing was more in aid of her children and grandchildren, should important medical decisions arrive in their lives. The field of genetic testing is vast and growing. Genetic testing provides valuable information, but should be approached with careful consideration of the cost, value of the information provided, and possible risks or drawbacks. It’s a trend that is unlikely to fade in the coming years.
*names have been changed to protect privacy.
