- [Narrator] If you've taken a 23andMe test
to see if you have a pre-disposition towards Alzheimer's
or used Ancestry.com to figure out
if heart disease runs in your family,
you're benefiting from genetic research.
That's because those commercial DNA testing services
rely on vast data sets of DNA
donated by members of the public to universities.
Thanks to this donated DNA,
we've been able to uncover the role genes play in disease.
But what about the donors?
Do they fully understand what's being offered
and the limitations of those benefits?
This is the result of an ongoing power imbalance.
Scientific progress has always relied
on the altruism of people,
but as researchers attempt to redress this one-sidedness
by sharing more information with participants,
new tensions are arising, like miscommunication
and a mismatch of expectations.
- Research, including, in particular, genomic research,
started with the idea of trying to find
generalizable knowledge, right?
It does not aim to help individual participants
in getting better health care.
- [Narrator] Heidi Rehm is the Medical Director
of the Broad Institute's clinical lab.
The Broad is one of the premiere sequencing facilities
in the world.
- The challenges in understanding the causes
of both common and rare disease is essentially
a big data problem.
We need many many thousands of patients
and individuals in the population to solve
the causes of both rare disease and common disease.
(air blowing)
This room is full of thousands,
in fact millions, of samples.
In the case of rare disease, it's like finding a needle
in a haystack.
We need to find those very rare patients,
and to do that, we need to enroll and sequence
hundreds of thousands, millions, of patients worldwide.
- (laughs) Ha ha ha.
Hey.
- [Narrator] That was the case with the Vesce family.
Two of their children, Leah and Frankie,
were born with a very rare and unknown condition.
Neither can speak or walk,
and both are fed through feeding tubes.
Both children also have frequent seizures.
For 14 years, Gianna Vesce searched
for an answer without success.
While browsing a Facebook group,
she stumbled across the Rare Genomes Project,
which is run out of the Broad Institute.
The scientists behind the Rare Genomes Project
are like detectives for DNA cold cases.
Their focus is finding the genetic causes behind
the rarest conditions,
those that stump even the best doctors.
What the Rare Genomes Project offers its participants
is essentially a super DNA test.
One far more in depth than those provided
by commercial services, and one that could
potentially provide an answer for people
like the Vesce family.
- I said, "I'm just gonna give it a shot."
And we went on the website, fit the bill for me
for my family, people who have pretty much exhausted
all of genetic testing and still, inconclusive findings.
- [Narrator] The Rare Genomes Project enrolled
the entire Vesce family, sequencing not just Frankie
and Leah's DNA, but also that of both parents.
Even middle child Adriana, who does not have the condition,
submitted her blood sample to the study.
- So at first, I was like, "Um, no, I'm not doing this,
"it's too scary", but then I realized that if it were
to really help them, I'll do it, but... (laughs)
I really don't like getting my blood drawn.
- I feel like for the first time, I had hope.
They worked with families like us before,
and we've given them answers.
So to me, it was a light at the end of the tunnel.
It was incredible.
- [Narrator] The researchers did figure out what
was wrong with Leah and Frankie.
Both children have a disease known as Neurodegenerative
Pontocerebellar Hypoplasia with Microcephaly.
The condition is associated with extremely
rare genetic mutations.
There are only a handful of documented cases.
- When we got Frankie and Leah's answer,
I just kept seeing Adriana.
I would never want her to go through what we went through.
(light instrumental music)
- [Narrator] The DNA that was extracted from the blood
sample Adriana submitted to the Broad was never analyzed.
That's because the goal of the Rare Genomes Project
is to understand and identify rare diseases,
not to provide ancillary medical
information to participants.
Although the project had requested and collected
samples from every family member,
the researchers never tested the middle child, Adriana.
The family had been briefed on the risks and benefits
of participating, but they didn't fully grasp
this important point.
That's not uncommon, according to medical ethicists.
It's like participants and researchers aren't speaking
the same language.
- So when I said, "Okay, can we test Adriana?"
Now, they said, "No, you have to do that independently."
- [Narrator] Adriana is healthy.
But knowing if she has the faulty gene could impact
her future plans for having her own children.
- So I was like, I didn't know Adriana wasn't kinda
part of that package, because I mean,
she technically could be a carrier of it.
So I would think it would just be due...
Have them do their due diligence just to test her for it.
- [Narrator] This disconnect of expectations
between researchers and the patients participating
in their studies is becoming increasingly common.
Although there's no hard data on the issue,
ethicists like Professor Sabatello expect the tension
to grow as DNA sequencing studies expand in size and scope,
and as their findings impact health care decisions
more and more.
- Genetic information is often considered to be special.
There are controversies about it,
but it is often considered special,
in the sense that...
That results may impact not only the individual,
but also family members.
(light electronic music)
- So when we sequence families and enroll families
in our research studies, we're mainly focused
on identifying the causes of disease
in the affected individuals.
- [Narrator] The researchers only sequence healthy siblings
if they need additional information to determine
what genes cause disease.
In the case of the Vesce family,
sequencing Adriana wasn't necessary to uncover the genetic
change responsible for Frankie and Leah's condition.
It's something that the family will have to figure out
how to pay for.
It could cost them a few hundred dollars
to test Adriana for the faulty gene,
according to Broad scientists.
- I would rather know if I have the gene or not,
because it's just better to know than not know
whether you have something.
- Whether or not I chose to enroll in the study
and get answers for a family of five,
as opposed to just the two, I would've done it anyway.
(light instrumental music)