HEALTH

Is genetic mapping for babies something that everyone should do?

Nov 6, 2023, 1:00 PM

baby feet, utah postpartum retreat helps new moms...

A Utah company focuses on retreats for postpartum moms. (Canva)

(Canva)

SALT LAKE CITY — Just this year, a project to screen the genomes of 100,000 babies for rare disorders started recruiting. However, since the mapping of the human genome, the care of babies who are born acutely ill has changed.

“We offer rapid whole genome sequencing right after birth,” said Dr. Sabrina Malone-Jenkins, a neonatologist and assistant professor of pediatrics at the University of Utah. “The consent rate for parents is 98%. They want the information. They want the doctors to have all the information possible to take the best care of their children.”

There are definitely challenges when you talk about genetic testing. Parents and others are concerned about where that data goes, and how it is protected.

“As long as we keep the baby and the family as our priority, we’ll do the right thing,” Malone-Jenkins said.

Genetic mapping for babies has come a long way

Malone-Jenkins shared that while she was training, genetic testing took four to six weeks.

“You could maybe do one test,” she said. “If it wasn’t positive, that was the end of the diagnostic journey.”

Now, with whole genome sequencing becoming the standard of care, it’s completely changed how doctors care for patients in the neonatal ICU.

“We’re able to get results back in less than a week and really understand the underlying reason as to why the baby is so sick,” she said. “We can fine-tune our care.”

Should genetic mapping happen for every baby?

That day is coming.

“I think there is a point in the future when we will be doing genetic sequencing for everyone,” Malone-Jenkins said. “Right now, it makes sense for us to do it in babies who are acutely ill because the reason that the testing is so powerful is we’re able to look at the genome in a way that’s based on the baby’s clinical presentation. It will actually alter how we care for them in real-time.”

Sometimes when expectant mothers have their ultrasound during pregnancy, the doctors will notice some features about the baby that make them wonder if there is an underlying genetic condition.

“When that happens, ” Dr. Malone-Jenkins explained, “we will bring them in and have them meet with a prenatal genetic counselor or a medical geneticist.”

Meeting with a counselor can help parents prepare to care for a child born with a genetic condition. Knowledge of the condition gives them a chance to process and make plans.

Parents usually know about syndromes like Down’s Syndrome before birth, but there are still surprises at the time of delivery. As the doctor explained, “Testing is not always perfect.”

Is gene therapy still science fiction?

Has the science progressed to the point where genetic conditions that threaten the life or health of a baby can be corrected, or is diagnosing them the extent of our current medical ability? “We aren’t quite at the point where we’re able to intervene in the pregnancy itself,” Malone-Jenkins said. “However, being able to identify an answer as a neonatologist gives us a fast track to be able to intervene for the baby’s care immediately after birth.”

She did say “That is rapidly approaching. There are people who are doing work now to get us to that point. We’re not quite there.”

Dr. Malone-Jenkins is in favor of this type of therapy if it benefits the child. “It’s essentially another treatment that we have to offer.”

Manipulation of genes

Some couples know that they are carrying a gene for a certain type of cancer or genetic condition. An example of this might be the BRCA gene that is associated with breast cancer. Is it possible that they could screen out that gene in a child?

Yes.

“With advances in IVF, we are offering pre-implantation genetic testing,” Malone-Jenkins explained. “That is an option that parents can go through IVF and, prior to an embryo’s being implanted, they can test to see if this genetic condition is present or not. There are options.”

Related reading:

We want to hear from you.

Have a story idea or tip? Send it to the KSL NewsRadio team here.

Health

Salt Lake Deputy Police Chief Josh Scharman conducts the grand opening of the Community Connections...

Eric Cabrera

Social workers with Salt Lake Police Department are responding to more callers than ever

The Community Connection Center social workers who work with the Salt Lake Police Department are getting an increase in mental health-related calls, as a result they have grown their team to able to respond to more.

13 hours ago

the us house of representatives shown at the capitol, the house passed a bill about sodium nitrite...

Allessandra Harris Gurr

House passes bill to ban a compound used in suicides

Legislation backed by Rep. Celeste Maloy would ban the consumer sale of sodium nitrite, a product becoming increasingly common in suicides.

18 hours ago

Sunscreen for cancer prevention...

Don Brinkerhoff

Utah oncologist talks cancer prevention ahead of Memorial Day

Huntsman Center Oncologist, Dr. Theresa Werner talks about the importance of cancer prevention during skin cancer awareness month.

22 hours ago

Khloee Camberlango after receiving a surgery for her scoliosis....

Angie Denison

Khloee’s journey: Overcoming scoliosis with courage and cheer

Khloee Camberlango was diagnosed with scoliosis at the age of nine. She had to proceed to go through braces and surgery to aid the scoliosis.

1 day ago

A photo taken of Matthew Perry in 2022....

Clayre Scott

Criminal investigation opened in relation to Matthew Perry’s death

A criminal investigation has been opened in relation to Matthew Perry's death due to high levels of ketamine found in his blood.

2 days ago

Former U.S. President Jimmy Carter and his wife, former first lady Rosalynn Carter, sit together du...

Curt Gresseth

Healthy marriages good for Utah taxpayers, says governor’s adviser

An adviser to Utah Gov. Spencer Cox says state government is invested in and promotes the importance of strong, healthy marriages and families.

2 days ago

Sponsored Articles

a doctor putting her hand on the chest of her patient...

Intermountain Health

Intermountain nurse-midwives launch new gynecology access clinic

An access clinic launched by Intermountain nurse-midwives provides women with comprehensive gynecology care.

Young couple hugging while a realtor in a suit hands them keys in a new home...

Utah Association of Realtors

Buying a home this spring? Avoid these 5 costly pitfalls

By avoiding these pitfalls when buying a home this spring, you can ensure your investment will be long-lasting and secure.

a person dressed up as a nordic viking in a dragon boat resembling the bear lake monster...

Bear Lake Convention and Visitors Bureau

The Legend of the Bear Lake Monster

The Bear Lake monster has captivated people in the region for centuries, with tales that range from the believable to the bizarre.

...

Live Nation Concerts

All the artists coming to Utah First Credit Union Amphitheatre (formerly USANA Amp) this summer

Summer concerts are more than just entertainment; they’re a celebration of life, love, and connection.

Mother and cute toddler child in a little fancy wooden cottage, reading a book, drinking tea and en...

Visit Bear Lake

How to find the best winter lodging in Bear Lake, Utah

Winter lodging in Bear Lake can be more limited than in the summer, but with some careful planning you can easily book your next winter trip.

Happy family in winter clothing at the ski resort, winter time, watching at mountains in front of t...

Visit Bear Lake

Ski more for less: Affordable ski resorts near Bear Lake, Utah

Plan your perfect ski getaway in Bear Lake this winter, with pristine slopes, affordable tickets, and breathtaking scenery.

Is genetic mapping for babies something that everyone should do?