Testimony of Dr. Chicoine about Prenatal Genetic Technology Testing Nov 2004

[Guest guest]

http://commerce.senate.gov/hearings/testimony.cfm?id=1341 & wit_id=3914

Given

at a Science, Technology, and Space Hearing:

Prenatal Genetic Testing Technology

Wednesday, November 17 2004 - 2:00 PM - SR 253 The Testimony of

Dr. Chicoine

Medical Director, Adult Down Syndrome Center of Advocate Lutheran General

Hospital

Chairman

Brownback and distinguished members of the Senate Commerce Subcommittee on

Science, Technology and Space, I thank you for giving me the opportunity to

testify about Prenatal Genetic Technology Testing. I am Chicoine, MD,

Medical Director of the Adult Down Syndrome Center of Advocate Lutheran General

Hospital in Park Ridge, Illinois. I would like to share with you my perspective

on genetic counseling and information provided to families prenatally and how

it relates to my work in addressing the health needs of adults with Down

syndrome. I would like submit a more comprehensive written statement for the

record.

If a literature

search is conducted researching “Down syndrome,” one finds that the

majority of citations deal with prenatal diagnoses. The focus is mostly on

screening blood tests, characteristics or findings on ultrasounds, and other

methods used to diagnose Down syndrome prenatally. A smaller number of

citations can be found on optimizing care for people with Down syndrome. Little

or no research can be found on prenatal counseling, particularly with regard to

the issue of providing information about adults with Down syndrome. Health care

professionals need to be sensitive to the needs of families for genetic

counseling that is both supportive and balanced. Researchers should examine the

individual experience of each family in order to determine how best to

accomplish this goal. At the Adult Down Syndrome Center at Advocate Lutheran

General Hospital, we work to provide the best information and care for adults

living with Down syndrome.

Adult Down

Syndrome Center at Lutheran General Hospital

The Adult Down

Syndrome Center is a unique collaboration among the National Association for

Down Syndrome, Advocate Medical Group, and Advocate Lutheran General Hospital.

The Center opened in January 1992 at the request of the National Association

for Down Syndrome, the parent group that serves the Chicago metropolitan area.

These parents identified a need to provide high quality health and psychosocial

services to their adult children.

We have grown to

a full-time Center and now serve more than 2,500 adults with Down syndrome. In

addition, we have published numerous articles and have presented many times at

educational forums, including the World Health Organization and the National

Down Syndrome Society.

Down Syndrome

Down syndrome is

the most common chromosomal cause of mental retardation. The incidence is

approximately 1 out of 800 to1,000 births. It affects all races, cultures, and

nationalities. Of the people with Down syndrome, 95% have an extra chromosome

21 and the other 5% have partial triplication of the 21st chromosome.

Generally, the risk of recurrence of Down syndrome in future pregnancies is 1%

greater than the baseline risk.

The baseline

risk for having a child with Down syndrome increases with maternal age. Blood

testing (maternal triple screening) is used as part of a screening process,

particularly in younger women. This detects 60% of trisomy 21 pregnancies with

a 5% false positive rate. Amniocentesis or chorionic villus sampling are

required to make a definite prenatal diagnosis and are generally offered to

women over 35 years of age and those with a positive blood test..

It is difficult

for me to paint an accurate picture of adults living with Down syndrome. Trying

to sum up a wonderfully diverse group of people is quite a challenge if you

have not met them personally. On average, adults with Down syndrome function in

the mild to moderate range of mental retardation, but the range runs

essentially the full gamut. However, increased level of function is clearly an

area that is expected to improve with early intervention and other

opportunities. I tell young families that over time we may see “two

syndromes”. Our older patients often had little education and inadequate

health care as children and few opportunities as they reached adulthood. The

younger people with Down syndrome not only have better education, health care,

and opportunities but there are increased expectations for their success. We

are seeing greater achievement and independence.

Information and

Counseling about Down Syndrome

For years

families were told that their child with Down syndrome would not survive into

adulthood. This advice guided the families’ expectations for their sons

and daughters. It has caused families to lower their expectations, inadequately

prepare for the full life span of their child, and left them unprepared to deal

with health and other issues of their adult child. During this time, the median

age of death of a person with Down syndrome rose from 25 years in 1983, to 49

years in 1997. The life expectancy of a person with Down syndrome is now 56

years. However, families have not been getting accurate information.

Misinformation

has also been given to families prenatally. Families have shared with me some

of their stories about the types of information they received when they were

pregnant with a child with Down syndrome. Some of the information is correct

but some is incorrect and the information often overemphasizes the negative.

Some of the

information provided during counseling is correct. Adults with Down syndrome

have a greater incidence of certain health conditions such as diabetes

mellitus, obesity, osteoporosis, celiac disease, sleep apnea, hypothyroidism,

atlantoaxial instability and other conditions.

Some of the

information presented is incorrect or misleading. For example, families are

often told that all people with Down syndrome develop Alzheimer’s disease

at a young age. It has been demonstrated that people with Down syndrome over

the age of 35 or 40 develop the microscopic changes that are seen in

Alzheimer’s disease. However, the incidence of clinical Alzheimer’s

disease does not appear to be universal and may actually mirror the incidence

seen in the general population, albeit on average 20 years earlier. There is

much to be learned about Alzheimer’s disease in people with Down

syndrome. Unfortunately, much unproven information has been recited to families

as fact and has caused a great deal of confusion and concern.

In addition,

usually there is information about Down syndrome that is not shared. The

incidence of most types of cancer is lower in people with Down syndrome.

Hypertension is quite rare. Coronary artery disease, the leading killer of

people without Down syndrome, is almost nonexistent in adults with Down

syndrome. Asthma also seems to be less common in adults with Down syndrome.

Beyond what is

said, it is the context or how the information is communicated. If every parent

were painted a picture of only the negative possibilities for their expected

child, perhaps no one would give birth to a child. It is important to present a

balanced picture of the strengths and challenges presented by these very

special children.

There are a

number of health conditions that are more common in adults with Down syndrome.

With improved health care and social, educational, and recreational

opportunities, many of these problems are not inevitable and the incidence may

be reduced. Obesity is a good example. It has been assumed that obesity was

inevitable in adults with Down syndrome because of a slower basal metabolic

rate. Research now shows that this is not true and the effects of healthier

nutrition and an active lifestyle are now being investigated. One disease that

is more common in adults with Down syndrome that would be expected to decrease

with improved nutritional status and exercise and recreational opportunities is

diabetes mellitus.

There is no

question that adults with Down syndrome face challenges. It is important that

adults with Down syndrome, their families and health care providers have

appropriate and accurate information to help them work through these

challenges. It is important that the information be provided throughout the

lifespan of a person with Down syndrome.

I strongly

recommend families who have a newborn with Down syndrome or are pregnant with a

child with Down syndrome meet with other families who have a child with Down

syndrome. There is some research that is available on the experience of

families with regards to how they were told their newborn has Down syndrome.

The majority were disappointed with how they were told or the information that

was provided. Referral to a support group improved the experience.

Conclusion

People with Down

syndrome are living longer, living more independently, and reaching for new

heights. With good health care, opportunities for achieving their potentials

and more realistic societal expectations, only greater accomplishments can be

expected.

Many of the

people providing prenatal information about Down syndrome seem to know little

about adults with Down syndrome. There is little research that has studied how

information on children and adults with Down syndrome is being provided to

families in prenatal counseling. Families have shared with me many of their

stories and these studies suggest that there is much to learn. Healthcare

professionals need to be sensitive to the needs of families for genetic

counseling that is supportive and balanced. Researchers should examine the

lived experiences of families in order to determine how best to accomplish this

goal.

This concludes

my remarks. Mr. Chairman, thank you again the opportunity to speak about these

important issues. I would be happy to answer any questions you may have.