Can Genetic Testing Save Lives?

One Family Lost Four Members From A Rare Disease; Now Newest Members Learning Their Risk

(CBS)  Twelve-year-old Becca Salberg gets a lot from her mother - including one thing that Lisa really wishes she hadn't given her daughter.

"We have hypertrophic cardiomyopathy," Lisa Salberg said.

It's a dangerous heart condition that can be carried by a gene - and one that's already killed four members of Lisa's family, CBS News medical correspondent Dr. Jon LaPook reports: her grandfather, an uncle, an aunt and her sister Laurie who died suddenly at the age of 36.

People with this disease might not even know they have it. An irregular heartbeat can cause sudden cardiac death. A surgically implanted defibrillator can detect and immediately correct the abnormality.

"That's the battery and the computer that reads every one of my heartbeats," Lisa said.

It's like having a safety net.

"It's like having an emergency room in your chest 24 hours a day, seven days a week," Lisa said.

Lisa always feared she had passed the gene on to her daughter.

"We were walking into day care and she just said, Mommy, my heart feels funny," Lisa said. "And my heart sunk. I said 'Oh, God.'"

Not knowing kept her up at night.

"I was afraid to go and wake her up in the morning," she said. "I was afraid what I might find."

Fortunately for the Salbergs, the gene that causes their heart condition has been isolated. It's just one of out of 20,000 to 25,000 genes in each cell of our bodies.

"A completely new era is beginning," said Dr. David Margulies. "Soon, we're going to be able to look for every known disease-causing variant in a single individual."

A machine in Margulies' lab is looking for those variants.

How many different patients are going to be analyzed?

"There are going to be 100 patients," Margulies said.

A hundred patients … who each have 20,000 different genes and we're looking for how many genes in each one?

"In that well, we might be looking for three, in another well we're looking for 10," he said. "Miniscule fractions of their genome."

It's mind-boggling … like locating a certain grain of sand on a beach.

"A severe disease could be caused by a change in just a single letter," Margulies said. "Out of the 3 billion letters in a person's genome."

Scientists found that one mutation in one of Becca Salberg's gene when she was 10 years old.

"What did they tell you?" LaPook asked.

"They just sort of told me that I have hypertrophic cardiomyopathy like my mom," Becca said. "But everything's going to be all right since we have the proper care and stuff."

The proper care for this disease includes an implanted defibrillator just like her mom's and a medicine to keep Becca's heart from racing.

"Before, when your heart would go fast, did you have second thoughts?" LaPook asked. "Were you thinking oh man, what's going on?"

"Yeah," Becca said. "Sometimes when it went really fast, I was really nervous and I just had to take a breather and just stop for a little. Doesn't happen any more now."

With the help of genetic testing, Becca feels safe doing everything she loves - just like any other kid.

[cindyl0522]

I am 45 years old and I have HOCM which is Hypertrophic Obstructive Cardiomyopathy. In August it will 10 years since I had my first surgery. I had gone to the doctors to go on the Phen-Phen diet and my dr did not like the sound of my heart and sent me to a cardiologist and that is how it was found. So I always say the Phen-Phen saved my life. I had my son and daughter tested by use of echocardiogram and it was negative... Again that was 10 years ago... I recently had my son tested again by echo because he is out of breath and they tell me he is fine... I also had these problems... So it does scare me... Insurance is giving me a fit cause everytime they are tested they tell me it is a history exam and they dont cover it... Under these circumstances it should be... Like you said it is a silent killer... what am I to do wait until he drops then say okay I guess he had the disease.... I wish I had the money to have my kids genetically tested... that way I would know for sure.

The reason I say my first surgery was 08/98 is because after the myectomy I developed other problems... My septum was so weak from the obstruction that when my muscle worked it blew a hole through my septum and I also had a aneurysm in the bottom of my heart so in January 1999 I went back in for another open heart surgery... So it has been fun..

I just hope they find away to detect the disease ... It is not fun to know you or a family could drop dead and have no idea... Good Luck to all

[tjl112157]

At least it is getting out that this disease is out there and that it is a silent killer. We lost our son with HCM at the age of 27 yrs old. This happen 2 years ago he left a wife and 2 children. We did not know of HCM and he had not had one sign of the HCM. Both sides of the family had not had any one else who died an early age or knowledge of this disease. We also have a daughter who is 2 yrs younger than our son who was pregnant at the time of her brother''s death. Her and the baby are fine and so are my son''s children, ages 2 1/2 and 11 at the time of his death. I think that there should be DNA testing at early age to see if that the child might be a carrier.