Please print this full document. You may want to print additional copies of this document for your doctors. Please send a flyer to your doctor. Keep the letter for future reference and mail the survey portion only to:


Marilyn Smith/Mary O'Toole
Center for Genomic Sciences
Allegheny General Hospital
320 N. East Street
Pittsburgh, PA 15212-4772

(888) 887-7729

Dear PAGER Parents and Families of Children with GER,

As you may know by now, we have been working with researchers at the Center for Genomic Sciences at Allegheny Singer Research Institute (ASRI), Allegheny General Hospital, Center for Genomic Sciences (AGH/CGS) to implement a genetic study of gastroesophageal reflux (GER). The Human Rights Committee of Allegheny General Hospital has approved this study, and we are now ready to begin. It is important for you as parents of those affected with GER to understand the aims of this research, because your cooperation with the various phases of the research project is essential to the success of the project. By participating in the research you will help us find the genetic cause of GER. Finding the genetic cause may allow for the development of earlier diagnosis, better treatments and will help lead us to a cure for GER.

We are asking you to complete the brief questionnaire below. Please return it to PAGER Association. This questionnaire is intended to help the project staff determine which families may be most useful for identifying the gene or genes contributing to the development of GER. The questionnaire asks for some basic identifying information and information on whether or not GER seems to run in your family. All information will be kept confidential. PAGER and the Center for Genomic Sciences have signed a collaborative contract assuring confidentiality. If you have any difficulty completing the form, just fill out as much as possible and make notes that indicate your questions/difficulties/concerns. You may also e-mail your questions to PAGER Assn. at "gergroup@aol.com" with the subject line "Survey 006 question."

If your family is identified as suitable for further testing, the Center for Genomic Sciences would like to contact you about participating in the next phase of the study. If your family is contacted, all family members will be asked to sign consent forms and to provide samples of their DNA for genetic analysis. These samples are normally obtained by a buccal smear method which involves gently swabbing the inside of the cheek with a brush similar to a mascara wand. DNA can also be extracted from a saliva sample for patients old enough to spit into a test tube. The samples will be collected at no cost to you. In addition, the staff at the Center for Genomic Sciences will collect some medical and family history information. Again, all information will be kept confidential. CGS does not routinely test for other genetic disorders, but you may request that other tests be run on your tissue sample if you have concerns about other genetic disorders.

The process of identifying study participants will take place in three phases. Please sign up now even if you are in a category that may not be contacted for a few years. Your brief medical history may give us the clues we need now.

Approximate time frame	Persons expected to be contacted
Years 1-2 (1999) DONE	Large families with numerous GER cases will be signed up first. These families are most helpful in pin-pointing the location of suspicious genes. (Several large families are needed.)
Years 3-4 (2004)	Families that have siblings with pediatric GER will be contacted once the search has been narrowed to a few genes. These siblings are helpful to find out if there are variations of genetic GER. (Hundreds of sibling pairs are needed.)
Years 5-6	Individual children with GER will be tested to see how many have the genetic type of GER. (Possibly a thousand individuals will be needed.)

You cooperation with this very important research endeavor is greatly appreciated, and we thank you in advance for your time.



Sincerely,

Beth Anderson
PAGER Executive Director

J. Christopher Post, MD
Medical Director, Center for Genomic Sciences
Director, Pediatric Otolaryngology
Allegheny General Hospital

Garth Ehrlich, PhD
Director, Center for Genomic Sciences
Allegheny General Hospital

OFFICE USE ONLY	Date Received	contact for recruitment? y n
Survey Tracking Number	Date Entered	Staff Initials

Gastroesophageal Reflux (GER) Genetic Screening Questionnaire

Today's Date (Please use American style mm/dd/yy) _ _ / _ _ / _ _

1. Family Identification Information:

Mother
Name:

Date of birth (mm/dd/yy):
Race/Ethnic Background:
Mailing Address:





Phone numbers (with country code if outside of the US):
Day
Evening


Father
Name:

Date of birth (mm/dd/yy):
Race/Ethnic Background:
Mailing Address:
(If different than mother's)





Phone numbers (with country code if outside of the US):
Day
Evening

2. List all Children:

Name	Date of Birth mm/dd/yy	Sex	Has the child ever had GER?	Are the parents listed above the biological parents of this child?
"	_ _ / _ _ / _ _	M F	Y N ?	Mother Y N Father Y N
"	_ _ / _ _ / _ _	M F	Y N ?	Mother Y N Father Y N
"	_ _ / _ _ / _ _	M F	Y N ?	Mother Y N Father Y N
"	_ _ / _ _ / _ _	M F	Y N ?	Mother Y N Father Y N
"	_ _ / _ _ / _ _	M F	Y N ?	Mother Y N Father Y N
"	_ _ / _ _ / _ _	M F	Y N ?	Mother Y N Father Y N
"	_ _ / _ _ / _ _	M F	Y N ?	Mother Y N Father Y N
"	_ _ / _ _ / _ _	M F	Y N ?	Mother Y N Father Y N

3. Family History of GER; list all members of your extended family who may have had GER, beginning with the children's mother and father.

Name	Sex	Relationship to children	Is this person available to be contacted?	Was the diagnosis of GER confirmed by some sort of test?
'	M F	'	Y N	Y N
'	M F	'	Y N	Y N
'	M F	'	Y N	Y N
'	M F	'	Y N	Y N
'	M F	'	Y N	Y N
'	M F	'	Y N	Y N
'	M F	'	Y N	Y N
'	M F	'	Y N	Y N

4. Diagnostic Information for the Children with GER or Suspected GER

First Child:
Name:
First symptoms at age: _____ months
Age at diagnosis: ______ months

How was the diagnosis of GER made? (Circle all the apply)

1. Endoscopy and/or Bronchoscopy (with or without biopsies)	Results:
2. pH Probe / Tuttle Test	Results:
3. Upper GI / Barrium Swallow / Hiatal hernia X-Ray	Results:
4. Milk Scan / Scintiscan / Gastric Emptying Study	Results:

5. Diagnosis made by doctor based on symptoms.
6. Diagnosis suspected by parent/ never confirmed. Please describe child's symptoms:



7. Other (describe):


Second Child:
Name:
First symptoms at age: _____ months
Age at diagnosis: ______ months

How was the diagnosis of GER made? (Circle all the apply)

1. Endoscopy and/or Bronchoscopy (with or without biopsies)	Results:
2. pH Probe / Tuttle Test	Results:
3. Upper GI / Barrium Swallow / Hiatal hernia X-Ray	Results:
4. Milk Scan / Scintiscan / Gastric Emptying Study	Results:

5. Diagnosis made by doctor based on symptoms.
6. Diagnosis suspected by parent/ never confirmed. Please describe child's symptoms:



7. Other (describe):


Third Child:
Name:
First symptoms at age: _____ months
Age at diagnosis: ______ months

How was the diagnosis of GER made? (Circle all the apply)

1. Endoscopy and/or Bronchoscopy (with or without biopsies)	Results:
2. pH Probe / Tuttle Test	Results:
3. Upper GI / Barrium Swallow / Hiatal hernia X-Ray	Results:
4. Milk Scan / Scintiscan / Gastric Emptying Study	Results:

5. Diagnosis made by doctor based on symptoms.
6. Diagnosis suspected by parent/ never confirmed. Please describe child's symptoms:



7. Other (describe):


Fourth Child:
Name:
First symptoms at age: _____ months
Age at diagnosis: ______ months

How was the diagnosis of GER made? (Circle all that apply)

1. Endoscopy and/or Bronchoscopy (with or without biopsies)	Results:
2. pH Probe / Tuttle Test	Results:
3. Upper GI / Barrium Swallow / Hiatal hernia X-Ray	Results:
4. Milk Scan / Scintiscan / Gastric Emptying Study	Results:

5. Diagnosis made by doctor based on symptoms.
6. Diagnosis suspected by parent/ never confirmed. Please describe child's symptoms:



7. Other (describe):


Fifth Child:
Name:
First symptoms at age: _____ months
Age at diagnosis: ______ months

How was the diagnosis of GER made? (Circle all that apply)

1. Endoscopy and/or Bronchoscopy (with or without biopsies)	Results:
2. pH Probe / Tuttle Test	Results:
3. Upper GI / Barrium Swallow / Hiatal hernia X-Ray	Results:
4. Milk Scan / Scintiscan / Gastric Emptying Study	Results:

5. Diagnosis made by doctor based on symptoms.
6. Diagnosis suspected by parent/ never confirmed. Please describe child's symptoms:



7. Other (describe):



5. If your family is found to be suitable for the genetic study, may we contact you directly about further participation? Y N

This study may take several years. If you move, we would appreciate being notified of your new address. If the address you gave us is no longer valid, may we contact you through your doctor or relatives? Y N

Please provide several addresses and contact names:







6. Please include any additional information you think may be helpful: