Written by Emil Luca: A new study in Annals of Internal Medicine shows that population genomic screening for three inherited conditions can save lives and money. The conditions are Lynch syndrome (LS), hereditary breast and ovarian cancer syndrome (HBOC), and familial hypercholesterolemia (FH).
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What is genomic screening?
Genomic screening is a way of analyzing DNA samples to find genetic variations that may increase the risk of certain diseases or traits. Genomic screening can help diagnose or predict the likelihood of developing a disease and suggest the best treatment options. The value of genomic screening for preventing disease has been controversial.
What did the researchers do to analyze the worthiness of genomic screening?
The researchers examined the cost-effectiveness of screening people for LS, HBOC, and FH at the same time using clinical sequencing with a limited panel of genes that are strongly linked to these conditions. They used data from published sources. They focused on different age groups (ages 20 to 60 years at the time of screening) of U.S. adults from diverse racial and ethnic backgrounds. They also considered the follow-up testing of first-degree relatives and the recommended preventive measures for people who tested positive.
They measured the outcomes in terms of new cases of breast, ovarian, and colorectal cancer; new cardiovascular events; quality-adjusted survival; and costs.
What did the researchers find out?
They found that screening the whole population with a limited panel of genes related to these three conditions is likely to be cost-effective in U.S. adults younger than 40 years if the testing cost is relatively low and people who tested positive have access to preventive measures.
This means that people who have a higher chance of getting these deadly diseases can be identified and treated early, which can improve their health and reduce health care costs.
Implications of the worthiness of population genomic screening
Population genomic screening is a promising strategy to identify individuals who have a higher chance of developing life-threatening diseases due to their genetic makeup. This could lead to better health outcomes by allowing for early diagnosis, prevention and intervention of genetic conditions.
However, this approach also poses ethical, social and legal challenges that require careful deliberation. For instance, how can we ensure that people’s genomic information is kept private and secure? How can we guarantee that everyone has equal and fair access to screening services? How can we prevent social stigma and discrimination based on genetic risk? These are some of the issues that need to be resolved before population genomic screening can be applied in a responsible and effective way.
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