Researcher looks at public perceptions around newborn testing

April 17, 2014

While 94 per cent of Canadians surveyed said they would participate in public health programs that screen newborns for a specific number of genetic conditions, only 80 per cent said they would be willing to participate in screening that would sequence their newborns' genomes. Most newborns in North America have a "heel prick test" in their first day or two of life in which a tiny amount of blood is taken from their heels and tested for about five to 54 conditions, depending on the state or province. Some conditions commonly tested for include cystic fibrosis, the enzyme deficiency phenylketonuria or PKU, and hypothyroidism, a thyroid hormone deficiency.

The idea is to identify and treat diseases before irreversible damage has occurred to prevent or reduce developmental, neurological or other health issues. These measures are not mandatory, but parental consent is typically implied because is considered the standard of care.

Dr. Yvonne Bombard, a genomics and health services researcher in the Li Ka Shing Knowledge Institute of St. Michael's Hospital and an assistant professor at the University of Toronto's Institute of Health Policy, Management and Evaluation, said technology has evolved to the point where we could now scan a baby's entire DNA sequence – not just conditions that can be treated in infancy, but such things as whether the baby carries the BRCA1 or BRCA2 genes associated with breast and ovarian cancer or has a genetic predisposition to Alzheimer's.

"Where do we draw the line on what we screen for?" she asked. "Public opinion should matter when we make these decisions. Newborn screening programs require almost 100 per cent participation to be effective and if we lose people's trust, people may opt out."

Dr. Bombard explores those issues in a paper published in the European Journal of Human Genetics.

She and other researchers conducted an online public survey that found 94 per cent of respondents would be willing to participate in newborn screening using existing technologies the screen for specific genetic conditions that can be treated in childhood versus 80 per cent who would participate in screening that would sequence their ' genomes for any and all forms of disease. Much smaller numbers thought it was a parent's responsibility to participate in newborn screening programs (48 per cent for existing technology and 30 per cent for whole genome sequencing).

Dr. Bombard said some of the issues around sequencing newborns' genomes include freedom of choice and the danger of over diagnosis.

"Does whole genome sequencing take away a child's choice to remain unaware of his or her future health risks?" she asked. "It could also generate a lot of genetic information that we don't understand. For example, there are genetic variants in the cystic fibrosis gene that are not known to be associated with . What do we do about that information? Monitor the child? Overtreat the child? Are these added harms that we are introducing into this screening program that may challenge its authority to continue to identify and treat the affected infants?"

"We can filter out what we look at in a genome. That is, we can type the whole book but don't have to read every sentence. But as a public health program we don't have the capacity to give parents a menu of options and ask them what type of health information they want to select to learn about in their children, so it's important that the public understand this new technology and its potential limitations so we can draw an appropriate line on what we screen for in these newborns."

"It's essential that we respond to technological developments with a full understanding of the needs of newborns, children and their families," said Fiona A. Miller, the study's principal investigator and associate professor in U of T's Institute of Health Policy, Management and Evaluation , noting that the study highlights the need for newborn screening policies that are informed by a range of stakeholders, not special interest groups exclusively.

"When we decide that it makes sense to screen for a particular condition in a newborn, we need to ensure that the whole system works to maximize benefits and minimize harms. As well, we need to invest in the care that can be of greatest value to children and their families."

Explore further: Should whole-genome sequencing become part of newborn screening?

Related Stories

Should whole-genome sequencing become part of newborn screening?

March 26, 2014
Should whole-genome sequencing be used in the public-health programs that screen newborns for rare conditions? That question is likely to stir debate in coming years in many of the more-than-60 countries that provide newborn ...

New guidelines issued for genetic screening in newborns, children

February 21, 2013
(HealthDay)— New guidelines on testing newborns and children for genetic diseases recommend screening for childhood diseases but note that testing for diseases that strike in adulthood may not be worthwhile.

FDA OKs mental disability blood test for infants

January 17, 2014
The Food and Drug Administration has cleared a first-of-a-kind blood test that can help predict intellectual disabilities in infants by analyzing their genetic code.

Ethical issues as scientists peek into baby genes

October 7, 2013
Little Amelia Sloan is a pioneer: Shortly after her birth, scientists took drops of the healthy baby's blood to map her genetic code.

The future in your genes

October 4, 2013
Would be parents are opting for cystic fibrosis (CF) carrier screening tests to assess the chances of having a baby suffering with CF, a life-shortening genetic disorder with no cure.

Parents of babies with sickle cell trait are less likely to receive genetic counseling, study says

September 11, 2012
Parents of newborns with the sickle cell anemia trait were less likely to receive genetic counseling than parents whose babies are cystic fibrosis carriers, a new study from the University of Michigan shows.

Recommended for you

New clues to treat Alagille syndrome from zebrafish

October 18, 2017
A new study led by researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies potential new therapeutic avenues for patients with Alagille syndrome. The discovery, published in Nature Communications, ...

Genetic variants associated with obsessive-compulsive disorder identified

October 18, 2017
(Medical Xpress)—An international team of researchers has found evidence of four genes that can be linked to obsessive-compulsive disorder (OCD). In their paper published in the journal Nature Communications, the group ...

An architect gene is involved in the assimilation of breast milk

October 17, 2017
A family of "architect" genes called Hox coordinates the formation of organs and limbs during embryonic life. Geneticists from the University of Geneva (UNIGE) and the Swiss Federal Institute of Technology in Lausanne (EPFL), ...

Study identifies genes responsible for diversity of human skin colors

October 12, 2017
Human populations feature a broad palette of skin tones. But until now, few genes have been shown to contribute to normal variation in skin color, and these had primarily been discovered through studies of European populations.

Genes critical for hearing identified

October 12, 2017
Fifty-two previously unidentified genes that are critical for hearing have been found by testing over 3,000 mouse genes. The newly discovered genes will provide insights into the causes of hearing loss in humans, say scientists ...

Team completes atlas of human DNA differences that influence gene expression

October 11, 2017
Researchers funded by the National Institutes of Health (NIH) have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.