1. Define and contrast predictive, diagnostic, presymptomatic, and carrier testing.
Predictive testing involves genetic testing of asymptomatic people to predict their risk of future disease. Presymptomatic testing is done on people who do not show disease symptoms but are at risk of developing the disorder. These two tests are usually used to detect genetic mutations associated with disorders that appear after birth, often later in life, such as diabetes type 2, etc. (National Institutes of Health, n.d.). Such information may raise awareness of vulnerable diseases and motivate people to make positive decisions regarding health behaviors such as diet, exercise, sleep, and more (National Cancer Institute, n.d.).
"Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition, and in many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms" (National Institutes of Health, n.d., para.2).
Carrier testing is offered to individuals with a family history of hereditary disease and people from certain ethnic groups who are at increased risk for certain genetic conditions, and it provides information about their children at risk of developing certain diseases (National Institutes of Health, n.d.).
・How can a person use family history to preserve their own good health or the health of their offspring?
Knowing a family's medical history can predict, to some extent, the risk of diseases such as diabetes, hypertension, various cancers, heart diseases, and cerebrovascular diseases, which have been pointed out to be related to genes.
A family history of a particular disease does not necessarily mean that you will develop it, but genetic testing may reveal that you are genetically vulnerable to the disease. In some cases, it can bring about negative emotions such as anxiety and anger in people, but in many cases, it works to possible to prevent the onset of symptoms by maintaining good lifestyle habits and receiving regular screenings for early detection and early treatment.
2. Take a stance on genetic testing of asymptomatic persons.
・Would you recommend it for certain risk factors, family history, specific diseases, or not at all?
I would recommend all people take Predictive/Presymptomatic genetic testing for diabetes, hypertension, and dyslipidemia. These genetic factors are the first stages of various lifestyle-related diseases, and preventing them can prevent developing of serious diseases such as heart disease and cerebrovascular disease.
On the other hand, I do not actively recommend carrier genetic testing. It is possible for each person to implement it arbitrarily, but it seems less significant than Predictive/Presymptomatic genetic testing. This is because carrier genetic testing basically has more of a negative aspect of causing anxiety, fear, and hesitation than a positive aspect of encouraging people to take action to prevent the onset of the disease.
・Would you personally pursue genetic testing? Under what circumstances?
I personally want to take all genetic tests. Because I believe that knowing the risks is better than not knowing the risks to cope with those diseases, even if certain conditions are unavoidable. I believe that the sooner you know the risks, the better, not doing it according to life events such as marriage and pregnancy.
3. A new patient, Michelle, is referred for your services. Her father died at an early age and her brother has just been diagnosed with Huntington disease.
・Should Michelle undergo genetic testing for this disease, knowing that there is no cure?
By not undergoing genetic testing, the fear and anxiety felt by knowing the risk of the disease may be avoided, but usually, humans feel greater anxiety due to the situation of "I do not know / I can not understand." And without knowing about the disease, patients cannot make any choices about their lives. Depending on Michelle's age, I would recommend that she undergo genetic testing in adulthood or later. I want to work with various professionals to support her so that she can understand her own situation correctly and form the life she wants to live as positively as possible before her onset.
・Would your advice change if an effective treatment was available for Huntington disease?
If treatment is possible, I encourage her to get genetic testing as soon as possible, regardless of age. Even if her onset is inevitable, knowing and accepting her situation will allow her to make choices to better her life.
References
National Cancer Institute. (n.d.). Ovarian, fallopian tube, and primary peritoneal cancer - Patient version. Retrieved from http://www.cancer.gov/types/ovarian
National Institutes of Health. (n.d.). What are the uses of genetic testing? MedlinePlus. Retrieved December 29, 2022, from https://medlineplus.gov/genetics/understanding/testing/uses/
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