Every health questionnaire you have ever filled out included questions about your family’s health history. In the last 40 years as more is learned about different diseases the questions have become more specific, slowly from “Has anybody in your immediate family died of cancer” to a lengthy foray at a specialist office asking about very specific diseases and then to further clarify if it was maternal or paternal side and what generation (parent or grandparent). This has come about because the hereditary nature of many diseases and disorders has been identified and further identified as to which lineage is most responsible. This is vital information even if it is just a guess about possible existence genetic predisposition and could be made much clearer with factual knowledge of genetic markers.

It could be stated with little protest that failing to obtain the medical history of both the patient and the family prior to treating for many conditions or attempting to diagnose many problems would be negligent. If it is deemed this important to know the family history in order for a medical professional to assess risk – even knowing that the information gleaned is second hand, from memory, often guessed at or simply unknown (seriously- who knows every disease their grandparents had?) still is an important piece of the overall medical chart to provide optimum care- then why do we settle for such a haphazard and unreliable method for collecting such data.

Genetic Predisposition Testing

As soon as you say genetic predisposition testing a lot of red flags go up. From religion to politics, the phrase never fails to elicit a reaction. The simple truth is that is what the family background questionnaires have been for decades. The fact that they are at best a hint of the likelihood, rely on often faulty data, and paint an incomplete picture does not change the fact the sole purpose of them is to identify a hereditary or genetic predisposition  to certain diseases. Since nobody is claiming that they should be disallowed and even the staunchest of opponents to genetic testing would be baffled by their Doctors failure to ask about family history the actual issue has been resolved and the only remaining question is on would it be better if the information garnered was more accurate?

The only legitimate question about use of family history and genetic predisposition results is whether they unfairly skew the opinion or findings of a medical professional. To answer that it must be remembered that most medical findings and diagnosis are subjective initially and require further testing to be established as fact. A doctor may believe you have the flu and treat you for the flu, but it is merely an opinion until viral testing proves that to be the case or the treatment is successful and the problem resolved in which case it is presumed s/he was correct. The same subjective judgment applies to predispositions. They increase the likelihood of many things but lacking the predisposition does not exclude the possibility nor does being predisposed make it a conclusive fact. The medical professional is still expected to exercise judgment of all factors when making a diagnosis and having better information can only make that judgment better.

Economics and Politics

Sadly, it is not possible to have a medical discussion without including discussions of economics and politics. This clearly applies to anything which would include spending significant money for genetic testing for entire populations. Currently, anybody that chooses can go online and order a mail in genetic predisposition test for under $500 from private genetic testing laboratories. With mass implementation on a public or national scale that cost would be very significantly reduced, certainly cutting cost in half. That is still not a small cost when considering millions of people.

The primary issue for years had been about the ability of insurance companies to use the information based on genetic predisposition results to increase premiums of individuals. This has already been addressed in the political and legal arena by making it impossible for insurance companies to exclude people based on pre-existing conditions or vary rates based on them under the Affordable Care Act. With this significant hurdle removed the only question remains the cost vs. benefit analysis. This is addressed by the ability to focus resources on people most likely to be effected reducing expensive unneeded testing. For example basic preventative care is mandated as a covered item but costs in that could easily be curtailed by more clearly identifying what preventative care makes sense and for which person.