Medical screening overdone; Every infant born a patient
Imagine your newborn, with all the anticipation being put through a battery of tests during their first few days of live to determine if any problems lie ahead for your new child in the future. Then imagine the worrying, the likelihood of false positive tests, and then the decisions you as a parent may need to make on this information which sometimes may be right. What if this child could potentially grow up to be a productive part of society and these tests fail to predict that but we act rashly, for a future we cannot properly read? Is this a good idea?
We see a similar ethical dilemma with the decision Angelina Jolie made to remove her breasts based on a what if scenario. While these are different issues, if we had those tests, we would now obsess about the what if. In the world of men with prostate problems, thousands had harmful procedures based on things found while aging that the patient was told can be fatal, even though the data suggests otherwise. Isn’t it ok not to know things?
Of course, screenings are marketing for procedures and other things that further medicalize our lives. They are undoubtedly expensive and will raise our amount of worrying and feed the medical system further while offering little of any benefit to society. Should be test for the sake of “I need to know”. An op ed piece in the Los Angeles Times does a great job of looking at this dilemma.
Genetic screening: Every newborn a patient
Giving parents a torrent of information about a child’s genetic disease risk will profoundly change the experience of bringing a new life into the world.
This year marks the 50th anniversary of routine newborn screening in the United States. Since 1963, tens of millions of babies have had blood drawn from their heels to be tested for rare diseases.
The program has unquestionably prevented tragedies. Screening for phenylketonuria, for example, has meant that newborns affected by the condition can be placed on a special diet in the first days of life, thereby preventing mental retardation. Screening for sickle cell disease, congenital hypothyroidism and some other rare conditions has saved lives as well.
But routine screening is now being expanded in ways that demand scrutiny.
In 2005, California became an early adopter of a much broader newborn screening program. Instead of looking for just a handful of conditions, blood from infants is now analyzed for more than 50.
And advocates are pushing for even more. They envision expanding the technology to sequence every baby’s genome, providing physicians with a full genetic profile to help predict disease risks, behaviors and drug tolerances.
This is not a mere pipe dream. The National Institute of Child Health and Human Development and the National Human Genome Research Institute are in the process of funding a first round of research proposals to integrate genomic technologies into newborn screening.
Opening up newborn screening for genetics has mostly been viewed as an issue of technological capacity: Is the technology sufficiently fast and reliable to make genetic screening feasible for health purposes? But a study I conducted of recent experiences with the expansion of newborn screening shows that incorporating new technologies can produce a host of unintended consequences for families.
One major sticking point with expanded newborn screening is that informed consent is not required in any state; just in the District of Columbia. The program started when there was limited attention to consent issues, and there was concern that asking for consent would undermine the program’s public health mission.
But even today, parental consent is not required, and as the number of things screened for has risen, so has the potential for false positives. The result is that parents often first realize the implications of newborn screening when they get a call from their pediatrician about retesting the baby because of a potential problem discovered from blood testing. Parents have told me that they were “devastated” or “freaked out” by this initial call.