Idaho Ceenter for Reprodu uctive Med dicine 11 11 Main Streeet Suite # 100 / Boise, ID 833702 (208) 3442-5900. PA ATIENT INF FORMATIO ON/INFORM MACIÓN DE PACIENTE E PATIEN NT/PACIENTE PA ARTNER/PARE EJA SOCIAL SECURIT TY NO./NUMERO DE SEGUR RIDAD SOCIAL SOCIAL SEC CURITY NO. / NUMERO DE S SEGURIDAD SOCIAL NAME (FIRST, MID DDLE INITIAL, LAST) / NOMBRE (PRIMERO, INITIAL, AP PELLIDO) NAME (FIRST T, MIDDLE INITIAL, LAST) / NOMBRE (PRIMERO, INITIA AL, APELLIDO) ADDRESS/DIRECCIÓN ADDRESS (IF F DIFFERENT FROM PATIE ENT) / DIRECCION CITY/STATE/ZIP / CIUDAD/ESTADO/CODIGO CITY/STATE//ZIP / CIUDAD/ESTADO/CO DIGO HOME PHONE/NU UMERO TELEFONO DATE OF BIRTH/ MIENTO FECHA DE NACIM AGE/ EDAD WORK PHONE SEX/ SEXO S CELL PHONE/CELLU ULAR MAR RRIED/SINGLE/TOGETHER MAR RIDO/SOLTERO/JUNTO HOME PHON NE/NUMERO TELEFONO DATE OF BIR RTH/ FECHA DE N NACIMIENTO AGE/ EDAD WORK PHON NE SEX/ SEXO CELL PHONE MARRIED/SINGLE/TOGETH HER MARIDO/SOLTERO/JUNTO EMERGENCY E CONTACT C INFO ORMATION / CO ONTACTO DE E EMERGÉNCIA CONTACT /CONT TACTO DE EMERGENCIA RE ELATIONSHIP/RELACION PATIE ENT'S EMPLOYM MENT/EMPLEAD DO de PACIENTE COMPANY NAME/COMPANIA OCCUPATIO ON/TRABAJO DAY TIME PH HONE/NUMERO TELEFONO O PA ARTNER EMPL OYMENT/EMPL LEADO de PARE EJA COMPANY N NAME/COMPANIA ADDRESS/DIRECCION ADDRESS/D DIRECCION CITY/STATE/ZIP / CIUDAD/ESTADO/CODIGO CITY/STATE//ZIP / CIUDAD/ESTADO/CO DIGO PRIMAR RY OR PATIENT'S INSURANCE/Aseg gurancia del Pacien nte INSURANCE E COMPANY NAME/ASEGUR RANCIA P.O. BOX/ADDRESS / DIRECCION P.O. BOX/AD DDRESS / DIRECCION CITY/STATE/ZIP / CIUDAD/ESTADO/CODIGO CITY/STATE//ZIP / CIUDAD/ESTADO/CO DIGO SUBSCRIBER NAME GROUP NO./GRUPO DO YOU HAVE FERTILIT TY COVERAGE? REFER RRING PHYSICIA AN/OTHER FOR RM OF REFFERA AL OCCUPAT TION/TRABAJO SECO ONDARY OR PAR RTNER INSURANC CE/Asegurancia de pareja INSURANCE COM MPANY NAME/ASEGURANC CIA POLICY I.D. NUMB BER/NUMERO DE IDENTIFICACION EVENING PHONE E POLICY I.D. N NUMBER/NUMERO DE IDE NTIFICACION GROUP NO./GRUPO O SUBSCRIBER R NAME OTH ER CONTACT IN NFORMATION/O OTRA INFORMA ACIÓN NAME /NOMBRE Patient email address/Correo electronico d de paciente: ADDRESS/DIRECCION Partner emaill address/Correo electronico de pareja: CITY/STATE/ZIP / CIUDAD/ESTADO/CODIGO Other/Otro: PHONE/NUMERO O DE TELEFONO Your reccords are considered d confidential inforrmation and we willl not release any infformation without yyour consent and siggnature. Please signn the releaase below. If needed, I hereby authorizze the Idaho Center for Reproductive Medicine M to release information to mysself, my insurance ccarrier, an Independent audit agency or o to my physician. I also authorize my y insurance carrier tto reimburse the Idaaho Center for Reprroductive Medicinee for serviices rendered. DATE E/FECHA __ ___________ ___ PATIENT T/PACIENTE E__________ _______________________ DATE E/FECHA __ ___________ ___ PARTNE ER/PAREJA____________ _______________________ HIPPA co onsent (Initial Please) ________________ _ Revised 6/2008 Office form m7 FEMALE PATIENT HISTORY Date _______________ Name_____________________________________________________ Weight___________________ Height ____________________ Blood Type (if known) _________________ How long have you been trying to get pregnant? Past history: (if applicable): Year Born Miscarriage? Abortion? Ectopic? Fert drugs Current Preterm alive? required? partner? labor? Preterm How many Pregnancy-induced delivery? weeks? hypertension? 1st pregnancy __ ___ ______ ________ _______ ______ ________ ______ ______ ______ __________ __________ 2nd pregnancy __ ___ ______ ________ _______ ______ ________ ______ ______ ______ __________ __________ 3rd pregnancy __ ___ ______ ________ _______ ______ ________ ______ ______ ______ __________ __________ 4th pregnancy __ ___ ______ ________ _______ ______ ________ ______ ______ ______ __________ __________ 5th pregnancy __ ___ ______ ________ _______ ______ ________ ______ ______ ______ __________ __________ Has your partner ever fathered a child? (circle) YES NO If yes, how many children/pregnancies?____________________________________________________ Infertility History: Have you ever been treated for infertility?_________________________________________ If yes, have you used infertility medications (ie: follicle stimulation hormone-FSH or Clomid)? _________ How many cycles of medications? _______________________________________________________ Have you ever undergone an IVF cycle? (circle) YES NO If yes, when and what were the results? _____________________________________________________ Menses: When was the first day of your last period? Are your periods regular? If yes, how many days between periods? Usual duration of menses? If no, how many times per year do you menstruate? Are your periods mild, moderate, severe, or none in terms of pain? Is intercourse painful for you? Do you have any issues with bowels during menses? (diarrhea, constipation, dumping syndrome)? ____________________________________________________________________________________ Have you ever used an ovulation predictor kit? (circle) YES NO If yes, when in your cycle do you have a positive surge? _________________________________________ Procedure History: Have you had any pelvic surgery(ies) performed? (circle) YES NO If yes, please explain: _____________________________________________________________________ D & C procedure(s)? YES NO If yes, how many and when? _____________________________________ Have you ever had a hysterosalpingogram (HSG) performed? (circle) YES NO If yes, who performed the HSG and what were the results? _______________________________________ Have you had a tubal ligation? YES NO Have you been diagnosed with endometriosis? YES NO Please list all types and dates of surgeries you have undergone:___________________________________ ______________________________________________________________________________________ Pap History: When was your last pap smear done? ____________________Where? ____________________________ Was it normal or abnormal? ________________________ (office and physician name) Have all of your paps been normal? (circle) YES NO Have you had any lab work done? (If yes, please describe tests, results, and where performed):__________ _______________________________________________________________________________________ Medical History: Are you currently experiencing any medical problems? (If yes, please describe):__________________________ __________________________________________________________________________________________ Family history of blood clotting disorders? YES NO Anyone with cystic fibrosis in your family? (circle) YES NO Have you ever been treated for cancer? (circle) YES NO If yes, please explain: _____________________________________________________________________ C:\Users\cory.colt\AppData\Local\Microsoft\Windows\Temporary Internet Files\Content.Outlook\LVR8VJ5V\Female History.doc Do you currently have, or have you ever had (circle all that apply): Anemia Diabetes Liver problems Appendicitis Dizziness Loss of balance Arthritis Epilepsy Measles: German Bleeding disorder Gall bladder problems Measles: Regular Blood transfusion Gonorrhea Mumps Chlamydia Heart disease Mumps w/testes involved Chronic bronchitis Hepatitis Neurological problems Chronic headaches Herpes Nongonococcal urethritis Colitis High blood pressure Parasitic infection Cystic Fibrosis Kidney infection Pneumonia Rheumatic fever Scarlet fever Seizures Syphilis Testes infection Testes injury Testes tumor Thyroid problems Tuberculosis Visual disturbances What medications do you regularly take? (Prescription and/or over the counter drugs; include dosage):_____________ _______________________________________________________________________________________________ What local pharmacy do you prefer?___________________________________________________________________ Do you currently or have you ever, used: Alcohol? How many drinks per week?_______________________________________________ Cigarettes? How many packs per day?______________________________________________ Illicit or recreational drugs?________________________________________________________ Allergies? (circle) YES NO If yes, please list:_____________________________________________ Countries of origin: Mother’s family: Father’s family: Ethnic background (circle): African American Jewish Asian American Indian Ethnic Group: (check all that apply) Asian-Indian Mediterranean Have you ever been tested for: African, African/American Sickle cell trait Chinese, Southeast Asian, Mediterranean (Greek or Italian) or Hispanic Thalassemia Caucasian, Jewish Cystic Fibrosis Jewish Bloom Syndrome Caucasian Hispanic Middle Eastern Other:________________ Yes No Date Result Canavan Familial Dysautonomia (FD) Fanconi Anemia (type C) Gaucher Disease (Type I) Glycogen Disease (Type 1a) Maple Syrup Urine Disease Mucolipidosis (Type IV ML IV) Niemann – Pick Type A Spinal Muscular Atrophy (SMA) _____________________________________________ Tay Sachs Other inherited disorders?: Would you like to take the test(s) recommended for your specific ethnic group? (Circle) Are you related to your spouse (consanguinity)? (Circle) YES YES NO NO Fragile X testing is recommended if the exact etiology of the mental retardation is unknown. Would you like this testing performed? (Circle) YES NO C:\Users\cory.colt\AppData\Local\Microsoft\Windows\Temporary Internet Files\Content.Outlook\LVR8VJ5V\Female History.doc MALE PATIENT HISTORY Date _______________ Name_____________________________________________________ Weight___________________ Height ____________________ Blood Type (if known) _________ Have you fathered a pregnancy prior? (circle) YES NO If yes, when and what was/were the outcome(s)? _____________________________________________ Are you, or have you ever been exposed to any of the following during employment or military service? (If so, please explain) Heat_______________________________ Toxic fumes_______________________________ Chemicals__________________________ Nuclear radiation___________________________ Other_________________________________________________________________________ Do you frequently take saunas or steam baths? YES NO Infertility History: Have you ever been treated for infertility in the past? YES NO If yes, please describe treatment: ___________________________________________________________ Have you had a vasectomy? YES NO If yes, who performed the procedure? _______________________________________________________ Any history of pelvic infection? YES NO Pelvic trauma? YES NO Pelvic surgery? YES NO If yes, please explain: ____________________________________________________________________ Have you ever had a semen analysis? (If yes, who performed the test and what were the results?) ______________________________________________________________________________________ Procedure History: Please list all types and dates of surgeries you have undergone:___________________________________ ______________________________________________________________________________________ Medical History: Are you currently experiencing any medical problems? (If yes, please describe):_______________________ ______________________________________________________________________________________ Have you ever been treated for cancer? YES NO If yes, please explain: ____________________________________________________________________ What medications do you regularly take? (Prescription and/or over the counter drugs; include dosage) _____________________________________________________________________________________ _____________________________________________________________________________________ Allergies? YES NO If yes, please list:________________________________________________________________________ Family history of blood clotting disorders? YES NO Any other medical problems in the family? YES NO If yes, please explain? _____________________________________________________________________ Do you, or have you ever, had (circle all that apply): Anemia Diabetes Liver problems Rheumatic fever Appendicitis Dizziness Loss of balance Scarlet fever Arthritis Epilepsy Measles: German Seizures Bleeding disorder Gall bladder problems Measles: Regular Syphilis Blood transfusion Gonorrhea Mumps Testes infection Chlamydia Heart disease Mumps w/testes involved Testes injury Chronic bronchitis Hepatitis Neurological problems Testes tumor Chronic headaches Herpes Nongonococcal urethritis Thyroid problems Colitis High blood pressure Parasitic infection Tuberculosis Cystic Fibrosis Kidney infection Pneumonia Visual disturbances Cancer (specify)___________________________ Prostatitis Do you or have you ever, used: Alcohol? How many drinks per week?___________________ Cigarettes? How many packs per day?___________________ Illicit or recreational drugs?________________________________________________________ C:\Temp\ICRM\Male History.DOC Countries of origin: Mother’s family: Father’s family: Ethnic background (circle): African American Jewish Asian American Indian Ethnic Group: (check all that apply) Asian-Indian Mediterranean Have you ever been tested for: African, African/American Sickle cell trait Chinese, Southeast Asian, Mediterranean (Greek or Italian) or Hispanic Thalassemia Caucasian, Jewish Cystic Fibrosis Jewish Bloom Syndrome Caucasian Middle Eastern Yes No Hispanic Other:________________ Date Result Canavan Familial Dysautonomia (FD) Fanconi Anemia (type C) Gaucher Disease (Type I) Glycogen Disease (Type 1a) Maple Syrup Urine Disease Mucolipidosis (Type IV ML IV) Niemann – Pick Type A Spinal Muscular Atrophy (SMA) Tay Sachs Other inherited disorders?: Would you like to take the test(s) recommended for your specific ethnic group? (Circle) Are you related to your spouse (consanguinity)? (Circle) YES YES NO NO Fragile X testing is recommended if the exact etiology of the mental retardation is unknown. Would you like this testing performed? (Circle) YES NO C:\Temp\ICRM\Male History.DOC Idaho Center for Reproductive Medicine 111 Main Street Suite # 100 / Boise, ID 83702 / (208) 342-5900 ICRM Notice of Privacy & Security Practices This following information explains how your personal health information might be used or disclosed and how you can attain access to this information. Please review this information carefully. Uses and Disclosures Medical Action: Your information may be used by ICRM or disclosed to other health care professionals for the purpose of evaluation your health, diagnosing medical conditions, and providing treatment. For example, results of laboratory tests and procedures will be available in your medical record to all health professionals who may provide treatment or who may be consulted by staff members. Health Care Operations: Your protected health information may be used as necessary to support the day-to-day activities and management of ICRM. For example, information on the services you received may be used to support budgeting and financial reporting, and activities to evaluate and promote quality. Payment: Your health information may be used to seek payment from your health plan, from other sources of coverage such as credit card companies that you may use to pay for services. For example, your health plan may request and receive information on dates of service, the services provided, and the medical condition being treated. Law Enforcement Officials: Your health information may be disclosed to law enforcement agencies, without your permission, to support government audits and inspections, to facilitate law-enforcement investigations, and to comply with government mandated reporting. Public Health Reporting and Officials: Your health information may be disclosed to public health agencies as required by law. For example, we are required to report certain communicable diseases to the state’s public health department. Other uses and disclosures require authorization. Disclosure of your health information or its use for any purpose other than those listed above requires your specific written authorization. If you change your mind after authorizing a use or disclosure of your information you may submit a written revocation of the authorization. However, your decision to revoke the authorization will not affect or undo any use or disclosure of information that occurred before you notified us of your decision. Additional Uses of Information Appointment reminders. Your health information may be used by our staff to send you appointment reminders. Individual Rights You have certain rights under the federal privacy standards. These include: The right to request restrictions on the use and disclosure of your protected health information. The right to receive confidential communications concerning your medical condition and treatment. The right to inspect and copy your protected health information. The right to amend or submit corrections to your protected health information. The right to receive an accounting of how and to whom your protected health information has been disclosed. The right to receive a printed copy of this notice. Use and Disclosure of Your Protected Health Information Your protected health information will be used by ICRM or disclosed to others for the purposes of treatment, obtaining payment, or supporting the day-to-day health care operations of the practice. Notice of Privacy Practices You can read the ICRM Security and Privacy Policy for a more complete description of how your protected health information may be used or disclosed. You may review the policy prior to signing this consent. Requesting a Restriction on the Use or Disclosure of Your Information You may request a restriction on the use or disclosure of your protected health information. ICRM may or may not agree to restrict the use or disclosure of your protected health information. If ICRM agrees to your request, the restrictions will be binding on the practice. Cancellation of Consent You may abrogate this consent to the use and disclosure of your protected health information. You must cancel this consent in writing. Any use or disclosure that has already occurred prior to the date on which your cancellation of consent is received will not be affected. Reservation of Right to Change Privacy Practices ICRM reserves the right to modify the practices outlined in the notice. I have reviewed this HIPAA consent form and give my permission to ICRM to use and disclose my health information in accordance with it. ___________________________ Name of patient (print) ____________________________ Patient signature ____________ Date ___________________________ Name of partner (print) ____________________________ Partner signature ____________ Date ___________________________ Name of patient representative ____________________________ Patient representative signature ____________ Date ___________________________ Relationship to patient Revised 6/08 Office form 12 Idaho Center for Reproductive Medicine 111 Main Street Suite # 100 / Boise, ID 83702 / (208) 342-5900 Request for Confidential Communication of Protected Health Information I, ____________________________ give ICRM permission to disclose medical (Patient’s Name - Please Print) information and/or test results to ______________________________________. Please list the relationship to the patient: ________________________________. ____________________________ (Patient’s Signature) _________________ (Date) I, ____________________________ give ICRM permission to disclose medical (Patient’s Name - Please Print) information and/or test results to ______________________________________. Please list the relationship to the patient: ________________________________. ____________________________ (Patient’s Signature) Revised 6/2008 _________________ (Date) Office form 5 Patient-ICRM Electronic Communication Agreement Electronic communications, including, but not limited to, emails, internet-based video conferencing through such applications as Skype and “FaceTime” through iPhones and iPads, for example (hereinafter “Electronic Communications”) provide an opportunity to communicate with your healthcare provider relative to issues that are non-emergent, non-urgent or noncritical. Electronic Communications are not a replacement for the interpersonal contact that is the very basis of the doctorpatient relationship. The following is intended to assist you with your determination of whether you wish to supplement your healthcare experience by electronically communicating with members of the healthcare team at the Idaho Center for Reproductive Medicine (ICRM, “Healthcare Provider”). General Considerations Your Healthcare Provider will treat Electronic Communications with the same degree of privacy and confidentiality as written medical records. Your Healthcare Provider has taken reasonable steps with internal information technology systems to protect the security and privacy of your personal identifying and health information in accordance with the security guidelines required by the Health Information Protection and Accountability Act of 1992, as amended (HIPAA.) Standard email services, including, but not limited to, AOL, Optonline, Hotmail, and Gmail, are not secure. This means that the email messages are not encrypted and can be intercepted and read by unauthorized individuals. Electronic communication via internet based video conference providers, including, but not limited to, Skype, claim to have safeguards in place to protect your personal information from unauthorized disclosure. However, there is the possibility that viruses, Trojans or other malicious software may obtain your private information on your computer system and release and/or use your information without your knowledge. There may be other risks associated with internet communication which are unknown at this time. Transmitting email that contains protected health information through an email system that is not encrypted do not meet and electronic communication via internet based video conference providers may not meet the security guidelines as required by the HIPAA. I have read and understood the above description of the risks and responsibilities associated with Electronic Communications with Healthcare Provider. I acknowledge that commonly used Electronic Communications are not secure and fall outside of the security requirements set forth by HIPAA. I understand that I can withdraw this consent authorizing Healthcare Provider to communicate with me via Electronic Communications at any time by written notification to Healthcare Provider. I release and hold harmless Healthcare Provider, its physicians and their staff, employees, affiliates, agents, officers, directors and shareholders from any and all expenses, claims, actions, liabilities, attorney fees, damages, losses, of any kind that I may have resulting from Electronic Communications between Healthcare Provider and me based on this authorization given to Healthcare Provider to communicate with me via Electronic Communications. Having been informed of the risks associated with Electronic Communications, I still desire to communicate with Healthcare Provider via electronic communications. In consideration for my desire to use Electronic Communications as an adjunct to in-person office visits with Healthcare Provider, I hereby authorize ICRM staff to engage in Electronic Communication with me. ________________________________________________ _________________ Patient Signature Date ________________________________________________ _________________ Partner Signature Date BILLING OFFICE POLICIES Idaho Center for Reproductive Medicine We look forward to providing you the most cost-effective treatments available to achieve your dream of parenthood. In order to keep our services as affordable as possible, we ask that you proactively follow our billing policies. The average cost of a new patient appointment is $230, with possible additional charges. It is imperative that we have a current copy of your insurance card on file, so please bring this with you to all appointments. As a service, we will bill participating contracted insurance carriers for covered services. Non-covered services are to be paid at the time of service. We will do our best to inform you whether benefits are or are not covered, but bear in mind these quotes are only from experience and cannot guarantee what your insurance will allow. Every employer determines what benefits they want to make available to their employees. We recommend you call your insurance carrier directly to get your current benefits, asking the following questions: 1) Do I need a referral from my primary care physician to obtain a consultation or service from Dr. Slater or Dr. Foulk? 2) Are diagnostic infertility tests covered? (Exampls – AMH (Anti-Mullerian hormone blood test), hysterosalpingogram (HSG), semen analysis, etc.) 3) Is treatment for infertility covered? (Examples – intrauterine inseminations, in vitro Fertilization (IVF)) If your insurance carrier requires a referral, please make sure you have the appropriate referral BEFORE you seek care from our office. You are responsible for keeping track of the number of visits used and/or expiration date on your referral. If you do not obtain the necessary referrals, no benefits will be paid by your insurance and you will be responsible in full for the services rendered. Insurance carriers will not back date referrals, so make sure you have the referral prior to seeking care. Please realize that insurance carriers have the right to request your medical records at any time. You gave them that right when you signed up with them. This office will not participate in any form of insurance fraud. Also realize that the law of limits allows your insurance carrier to audit your claims for up to seven years after the date of service and to ask for all money paid incorrectly to be refunded back to the insurance carrier. Our business policies are a necessary part of the financial resources required to maintain this vital health care service for our patients. If you have disputes with your insurance carrier, you, the insured will get a quicker and more accurate response than our office. Please understand your insurance coverage is a contract between you and your insurance company and while we will continue to provide this service, you are ultimately responsible for your account. I acknowledge that I have read, understand, and agree to abide by the above information. ____________________________________________ (Signature) _________________ (Date) ____________________________________________ (Signature/Partner) _________________ (Date) Idaho Center for Reproductive Medicine Russell A. Foulk, M.D. Reproductive Endocrinology & Fertility Laboratory Director Cristin C. Slater, M.D. Reproductive Endocrinology & Fertility Medical Director 111 Main Street Suite # 100 Boise, Idaho 83702 Phone # (208) 342-5900 Fax # (208) 342-2088 Authorization to Release Medical Records Patient Name(s):___________________________________________________________________________ Date(s) of Birth:______________________________ Phone #(s):___________________________________ FROM: _________________________________________________________________________________ ___________________________________ Fax #__________________________________________ ___________________________________ Phone #_______________________________________ TO: _________________________________________________________________________________ ___________________________________ Fax #_________________________________________ ___________________________________ Phone #_______________________________________ I hereby authorize and request the release of the following information: ______ All Medical Records ______ Medical record information for visit date of __________ to __________. ______ Progress Notes ______ Lab reports ______ Hospital and/or Operative reports ______ Other: ____________________________________________________________________________ I understand that my records may contain information regarding the diagnosis or treatment of HIV (AIDS virus), other sexually transmitted diseases, drug and/or alcohol abuse, mental illness or psychiatric treatment, and infertility treatment. I give authorization for these records to be released. This authorization is valid for this request only. This authorization may be revoked in writing at any time with the exception of information released prior to the date of the written revocation. The Idaho Center for Reproductive Medicine cannot condition treatment or eligibility of benefits on whether the authorization is signed. Protected health information (PHI), once released, has the potential to be redisclosed by the recipient and is no longer protected by the Idaho Center for Reproductive Medicine. Signature (patient): __________________________________________ Date: ______________________ Signature(partner):___________________________________________ Date:______________________ Russell A. Foulk, M.D. Cristin C. Slater, M.D. Reproductive Endocrinology & Fertility 111 Main St., Suite 100 Boise, Idaho 83702 Tel.(208) 342-5900 Fax (208) 342-2088 Idaho Center for Reproductive Medicine Genetic Carrier Screening Recommendations The American College of Obstetricians and Gynecologist (‘ACOG’) and the American College of Medical Geneticists and Genomics (‘ACMG’) recommends genetic carrier screening tests for patients who are planning a pregnancy to screen for genetic disorders for which you may be a carrier. A carrier is someone that has a single abnormal gene that may be passed to the child. If you pass the abnormal gene to the child, the child will be a carrier for that genetic disease. However, if your reproductive partner also carries the same abnormal gene, there is a 25% chance that your child will inherit one abnormal gene from each parent and be affected with that genetic disease. Most genetic disorders are diseases that have serious ongoing medical problems and are associated with a shorter life span. Cystic Fibrosis (‘CF’) and Spinal Muscular Atrophy (‘SMA’) are two genetic carrier screening tests recommended for all patients, regardless of medical/family history or ethnicity, due to the prevalence of these genetic carrier conditions in the general population. Other genetic carrier tests are recommended based on a person’s ethnic or racial background and/or family history. The selection of these tests is consistent with the recommendations from ACOG and ACMG for genetic carrier screening based on current evidence of their prevalence in certain ethnic and racial populations. The recommended genetic carrier screening tests can be expensive and may or may not be covered by medical insurance. Keep in mind that if you test positive for any of the genetic conditions, your reproductive partner will need to be tested. You will have the opportunity to meet with one of our financial counselors to discuss the cost of the specific tests recommended for you. The following is a list of recommended genetic carrier screening tests by ethnicity. Please check the boxes next to any/all ethnic groups with which you and your partner identify below (if applicable): Genetic Disease Cystic Fibrosis (Panel 1 & 2) Spinal Muscular Atrophy (Panel 1 & 2) Beta Thalassemia (Panel 2) Bloom Syndrome (Panel 2) Canavan Disease (Panel 2) Familial Dysautonomia (Panel 2) Fanconi’s Anemia Type C (Panel 2) Guacher’s Disease (Panel 2) Hexosaminidase A Deficiency (Panel 2) Mucolipidosis Type IV (Panel 2) Niemann-Pick Disease Type A (Panel 2) Sickle Cell Disease (Panel 2) Tay-Sachs (Panel 2) Hemoglobinopathy Profile (Not included in Panel 1 or 2) Female Ethnicity Male All patients All patients African, African American, Cajun, Eastern Asia, French Canadian, Hispanic, Middle Eastern, Northwest European, South Asia, Southeast Asia, Southern Europe Ashkenazi Jewish Ashkenazi Jewish Ashkenazi Jewish Ashkenazi Jewish Ashkenazi Jewish Ashkenazi Jewish Ashkenazi Jewish Ashkenazi Jewish African, African American, Ashkenazi Jewish, Cajun, French Canadian African, African American, Caribbean, Central American, Hispanic, Latin Mexican, Middle Eastern, Northwestern European, Puerto Rican, South Asia, Southeast Asia, Southern Europe Genetic carrier testing is recommended but not required prior to fertility treatment. However, you cannot proceed with fertility treatment until you have made a decision regarding genetic carrier testing. If screening is accepted and the results have been returned indicating that genetic carrier screening for your reproductive partner is indicated you will need to complete the recommended screening or sign a consent declined the recommended screening prior to treatment. For information about specific genetic disorders, please visit www.counsyl.com. Clinical form 256 Idaho Center for Reproductive Medicine 111 Main St. Ste. 100 / Boise, ID 83702 / (208)342-5900 ICRM Genetic Screening Fee Schedule ICRM Fundamental Panel (Panel 1) (Cystic Fibrosis-32 mutations) $349.00 ICRM Counsyl Panel (Panel 2) (Cystic Fibrosis-32 mutations) $349.00 Cystic Fibrosis- 97 mutations Lab Corp $340.00 Fragile X Lab Corp $305.00 Karyotype State lab $707.00 Hemoglobinopathy Panel Lab Corp $50.00 clinical form 257 Russell A. Foulk, M.D. Cristin C. Slater, M.D. Reproductive Endocrinology & Fertility 111 Main St., Suite 100 Boise, Idaho 83702 Tel.(208) 342-5900 Fax (208) 342-2088 Idaho Center for Reproductive Medicine Genetic Carrier Screening Consent Genetic carrier screening is done to determine if one or both parents may have abnormal genes that may increase the chance that their child will have a specific genetic disease. For many genetic diseases, if someone has an abnormal gene, that person is considered a carrier for that genetic disease. If this abnormal gene is passed to the child, the child will usually not be affected with that genetic disease but will be a carrier for that genetic disease. If both parents are carriers of the abnormal gene for the same genetic disease, there is a 25% chance that their child will inherit one abnormal gene from each parent and be affected with that genetic disease. Genetic screening is typically done on one partner first, and if the first partner tests positive, then the other reproductive partner is tested. The American College of Obstetricians and Gynecologists (‘ACOG’) and the American College of Medical Geneticists and Genomics (‘ACMG’) recommend routine screening for certain genetic diseases and additional screening when indicated due to ethnicity, family history, or other known risk factors. Two of the recommended standard genetic carrier screening tests include Cystic Fibrosis (‘CF’) and Spinal Muscular Atrophy (‘SMA’). During the course of your evaluation and treatment at ICRM, your physician may recommend additional genetic carrier screening for specific genetic disease(s) which may be indicated based on your medical history and/or family history to determine whether or not you are a carrier for the specified genetic disease(s). Also, there are certain genetic carrier screening tests that may be ordered by your physician based on your ethnic or racial background. Although genetic carrier screening tests are a valuable tool there are limitations: Negative result – The genetic testing laboratory usually tests for the most common mutations (change in gene structure) and may not identify the less common mutations. So it is possible to have a negative test result but still have a genetic mutation that was not or could not be identified by the testing laboratory due to limitations of current technology. Positive result - A positive test result indicates that you are a carrier for a genetic mutation that can cause a specific genetic disease or can put you and/or your child at risk for developing a disease. If you are determined to be a carrier, your reproductive partner will then be advised to undergo genetic carrier testing. Inconclusive result – Sometimes it is not possible for the testing laboratory to determine genetic mutations. In this case, the genetic carrier test may need to be performed again at the same or different testing laboratory. It may take 2 to 3 weeks to receive the genetic carrier screening test results and testing should be performed prior to beginning fertility treatment. Additionally, if you are concerned with passing an inherited (genetic) disorder to your offspring, you have the option of speaking with a genetic counselor, who may suggest additional preconception tests or post-conception (prenatal) procedures such as amniocentesis. I/We acknowledge: The genetic carrier screening tests that have been recommended to me are voluntary and if I choose to have them performed, it will be to determine if I am a genetic carrier (within the limitations of the test) of the conditions being tested. Fertility treatment cannot proceed until I/we have made a decision regarding genetic carrier screening and, if genetic carrier screening is not declined, the genetic carrier screen results are returned indicating genetic carrier screening for my reproductive partner is not indicated. The importance of genetic counseling to further discuss the genetic test(s) and how it may affect me and my family. Information about genetic counseling services has been provided to me. The cost of the recommended testing may not be covered by my insurance plan and I will be responsible for the costs associated with the genetic carrier testing. It may be possible that even with a negative result I still could be a genetic carrier or predisposed to the genetic condition being tested due to the limitations of the genetic testing. Clinical form 254 1 The genetic test results will be contained in my medical record and the Center will take all appropriate safeguards to protect the confidentiality of my personal health information. However, I hereby consent to the release of these results to my partner, the physicians and nursing staff directly involved in my care for the purpose of my treatment, my current insurance carrier in order to seek coverage or reimbursement, and others specifically authorized by law to gain access to my medical records. Current Federal & State laws prohibit discrimination by insurance carriers based on results of genetic carrier screening tests. I will release my genetic carrier screening test results to my partner. It has been recommended that I discuss the results of my genetic carrier screening test with family members. The recommended testing should be performed and results should be reviewed prior to initiating any fertility treatment. Proceeding with fertility treatment without the benefit of my genetic carrier status could results in an unfavorable outcome including a child with a genetic disorder. ACKNOWLEDGEMENT I/We have met with my/our physician and healthcare team to discuss genetic carrier screening. I/We have been fully informed of the purpose of the genetic carrier screening, reliability of the screening results, risks and benefits of agreeing to or declining genetic carrier screening and/or genetic counseling and available alternatives to genetic carrier screening. I/We have had the opportunity to ask questions and have all my/our all my questions answered to my/our satisfaction. I/We have made the following decision regarding genetic carrier screening, free from coercion: _____ ______ I/We consent to genetic screening and elect: _____ _____ _____ _____ _____ ______ ICRM Fundamental Panel ______ ICRM selected Counsyl Panel ______ Counsyl Full Panel ______ Fragile X ______ Hemoglobinopathy Panel _____ ______ I/We have already had genetic screening prior to coming to ICRM _____ ______ I/We decline genetic screening and understand that this is against the advice of ICRM physicians. I/We agree to hold ICRM, its physicians, agents and staff harmless from any and all liability should any consequences occur secondary to my declination of genetic carrier screening. _____ ______ I/We would like more information about genetic carrier screening from a genetic counselor before making a decision. I/We understand that fertility treatment cannot proceed until I/we have made a decision to consent to or decline genetic carrier screening and have signed and dated the informed consent form, and, if the genetic carrier screening has not been declined, the genetic carrier screening results have been returned indicating that genetic carrier screening for my reproductive partner is not indicated. ________________________________ Name-Female Patient (Please print) ________________________________ Name-Reproductive Partner (Please print) ________________________________ Signature- Female Patient ________________________________ Signature – Reproductive Partner ____________________ Date _________________ Date Clinical form 254 2 Sp pinal Muscu M ular Attrophy y Wha at is Spinal Muscular Atrophy? A Spina al muscular atro ophy (SMA) is a disease in which w certain ne erves in the bra ain and spinal ccord die, impairring the person n’s ability to move e. Called motorr neurons, thes se nerves contrrol our ability to o sit up, crawl, and walk. In se evere cases, a person will no ot be able to sit up ind dependently an nd their breathing and swallow wing may also be impaired. In n the mildest ca ases, symptom ms begin in adu ulthood and make e independent movement m such as walking more m difficult, bu ut still possible . There are five e main subtype es of spinal muscular atrophy, each described belo ow. It is not alw ways possible to o predict which h type of SMA a child could ha ave based on tthe genetic mutation he or she in nherits. This is true of the muttation (exon 7 deletion) d for wh hich Counsyl te ests. Type e0 Type 0 is the most severe s form of SMA. Symptom ms can often be seen in the la ater stages of p pregnancy as tthe fetus is lesss active than expeccted. Once borrn, the infant wiill have little ab bility to move an nd may not be able to breathe e and swallow independentlyy. Infants with type 0 SMA often die before the ag ge of 6 months s. Type e I – Also Callled Werdnig g-Hoffmann Disease D Type I is another se evere form of th he disease. Sym mptoms develo op within the firrst six months o of life. Infants w with SMA type I often have troublle breathing an nd swallowing. Their muscle tone and streng gth are extreme ely poor; they ccannot sit up w without support and will not meet any motor skills milestones. Their intellect, however, is no ormal. Most ch hildren with typ pe I SMA will diie before the ag ge of two. Type e II – Also Ca alled Dubowitz Disease In children with type e II SMA, muscle weakness be ecomes appare ent between th he ages of 6 an nd 12 months. W When placed in n a sitting position, people with h type II SMA can c usually maintain the posittion without sup pport, howeverr they often losse this ability byy their midteenss. People with SMA S type II can nnot stand or walk w without as ssistance. Theyy have poor mu uscle tone and strength and th heir fingers usually tremble unco ontrollably. Th heir intelligence e is typically normal or above average. Type e III – Also Ca alled Kugelb berg-Welande er Disease Type III SMA is a milder form of the disease. Its symptoms s begin sometime be etween the age e of one year a and early adulth hood. As young g childrren, they may fall repeatedly and a have troub ble walking dow wn stairs. While e their muscless are weaker th han normal, peo ople with type III SM MA can usually stand and walk without assis stance, although they may losse this ability la ater in life. The legs are often more severely affectted than the arm ms. Type e IV Type IV is the milde est form of spinal muscular atrrophy. With this s form of the diisease, muscle e weakness does not begin until one’s 20s or 30ss, or even laterr. This weakness is often mild d to moderate, and the person n can still walk and move inde ependently. Th hese individuals s may e experience mild d to moderate tremors and/orr twitching. The e disease typica ally does not d diminish lifespan. With all type es of SMA, there can be difficultties in sleeping g and gaining weight. w Frequen nt pneumonia iis common. A ccurvature of the e spine and stiff joints are also ccommon. Wom men with milder forms the dise ease have been n known to give e birth to health hy children, although many off the pregn nancies had complications.Th he disease is ca aused by a sho ortage in SMN protein, which helps preserve e motor neuron ns. Without it, the ne eurons cannot pass message es from the brain to the musclles of the bodyy. How w Common is i Spinal Mu uscular Atrophy? In the e United States s, 1 in every 6,0 000 to 10,000 people p develop p spinal muscullar atrophy and d 1 in 50 is a ca arrier of the dissease. It has been found in peoplle of every race e, but is most common c in Cau ucasians, of wh hom 1 in 35 is a carrier. Carrie er rates for oth her populations includ de: Ashkenazi Jews J (1 in 41 to 62), Asians (1 ( in 53), Africa an Americans ( 1 in 66), and H Hispanics (1 in 117). Studies d done in specific c popullations have found carrier rate es of 1 in 50 in Germany, 1 in n 57 in Italy, an nd 1 in 62 in Ch hina. How w is Spinal Muscular M Attrophy Trea ated? There e is no cure for spinal muscula ar atrophy, how wever some of its symptoms ccan be addresssed. For childre en with the mo ore severe formss of spinal muscular atrophy, mechanical bre eathing aids ma ay prolong lifesspan. In some cases, breathing is more diffiicult at night, leading to a lack of sleep. In those cases, certain types of respiratory assistance may be helpful. If getting enough nutrition is an issue, some people with SMA have turned to feeding tubes. Those with milder forms of the disease sometimes choose to have surgery to correct curvature of the spine (scoliosis) or joint problems. In forms of the diseases that are fatal in early childhood, these surgeries are often not done. What is the Prognosis for a Person With Spinal Muscular Atrophy? The prognosis for a person with SMA varies greatly depending on which type of the disease he or she has. Type 0 The disease is typically fatal between 2 and 6 months of age. These infants do not develop any motor skills expected of infants their age. Type I This type of SMA is usually fatal within two years. With mechanical breathing aids, children with type I SMA may live longer. There are a few known cases of SMA type I in which the child survived to adolescence or adulthood. Type II With type II SMA, 75% of those affected live to the age of 25. They are often able to sit independently when placed in a sitting position, but lose this ability by their mid-teens. Type III People with type III SMA may live a normal lifespan. Many learn to walk independently, though most lose the ability to do so by their 30s or 40s. Type IV A normal lifespan is possible for people with type IV SMA. They do not develop symptoms until their 20s or 30s and usually retain the ability to walk independently. Resources Claire Altman Heine Foundation While other organizations are working hard to find a treatment or cure, the Claire Altman Heine Foundation uses its funding to identify carriers of SMA, support population based SMA carrier screening, raise awareness of SMA and educate the public and medical communities about SMA. 1112 Montana Avenue # 372 Santa Monica, CA 90403 Phone: (310) 260-3262 [email protected] Families of SMA A group of 55,000 members that aims to advance research on SMA and support families affected by it. P.O. Box 196 Libertyville, IL 60048-0196 Phone: (800) 886-1762 [email protected] Genetics Home Reference Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health. Cy ystic Fibros F sis What is Cysttic Fibros sis? Cystiic fibrosis (CF F) is a genetic c condition ch haracterized by b the producttion of abnorm mally thick, stticky mucus, p particularly in the lu ungs and dige estive system m. While it is normal to have e mucus lining g the organs of the respira atory, digestivve, and repro oductive syste ems in order to t lubricate an nd protect the em, in people with CF this mucus is thicck and sticky. This abno ormal mucus results r in the clogging and obstructing of o various sysstems in the b body. CF is a chronic condition that worsens over time e. Mostt people with CF experienc ce breathing problems p and frequent lung g infections th hat lead to pe ermanent lung g damage such as scarring (fibrosis) ( and sac-like grow wths (cysts). The T pancreas , an organ tha at produces in nsulin and dig gestive enzyymes, is often affected by CF. C The sticky y mucus caus sed by CF can n block ductss which ferry e enzymes from m the panccreas to the re est of the body, resulting in n problems su uch as diarrhe ea, malnutritio on, and poor g growth. Inferttility, particcularly in men n, and delayed puberty are e also commo on among peo ople with cysttic fibrosis. The sseverity of symptoms varie es from perso on to person. Most cases o of CF are diag gnosed in earrly childhood. Those who are d diagnosed afte er the age of 18 typically have h a milder form of the co ondition. Muta ations in the same gene tha at causes CF can result in a condition in n males called congenital absence of th he vas deferrens (CAVD). In CAVD, the e vas deferen ns (a reproduc ctive organ in nvolved in spe erm transport) is improperly formed, leading to infertility y. How w Commo on is Cysttic Fibros sis? Acco ording to the National N Institutes of Health h, CF is the most m common n deadly inherrited condition n among Cau ucasians in the U United States.. Disease-cau using mutation ns in the CFT TR gene are m more common n in some eth hnic populations than otherrs. Ethn nic Group Carrier Ra ate Affecte ed Rate Cauccasian 1 in 28 1 in 3,0 000 Ashkkenazi Jewish h 1 in 28 1 in 3,0 000 Hispa anic 1 in 46 1 in 8,3 300 Africa an American 1 in 66 1 in 17,000 Asian n 1 in 87 1 in 30,000 How w is Cystiic Fibrosis Treated d? There e is no treatm ment that addrresses the ca ause of CF, bu ut there are m many options to treat the syymptoms it prroduces. Beca ause thick mucus can build d up in the res spiratory syste em, it is impo ortant to keep the person's airways open n in order to ease e breathing an nd prevent infe ection. This can c be accom mplished with vvarious presccription drugs as well as byy physically loose ening mucus by pounding on o the person n's back in a prescribed p wa ay. This treatm ment, known as "postural d drainage and chest percussion" must be perfformed by som meone other than the affeccted person, and is typicallly done at lea ast once daily y. As re espiratory infe ections occur,, physicians ty ypically presc cribe antibioticcs. Physicians will also monitor the digestive system to ensure that the person is getting proper nutrition. Enzymes or vitamin supplements may be prescribed. Both the respiratory and digestive systems of a person with CF must be monitored regularly by his or her medical team. Surgery may be needed to correct certain problems caused by CF. Lung transplants are an option for some people. What is the Prognosis for a Person With Cystic Fibrosis? Thanks to improved treatments and a better understanding of the condition, the average life expectancy for people with CF who live to adulthood is 35 years. Children born with CF today who receive early treatment may live even longer. Resources Cystic Fibrosis Foundation The largest non-profit devoted to CF, it has 80 chapters and branches across the U.S. It funds research on CF, accredits CF care centers, and provides families with support and information. 6931 Arlington Road Bethesda, MD 20814 Phone: (800) FIGHT-CF (344-4823) [email protected] Genetics Home Reference Explanations of an extensive number of genetic conditions written for everyday people by the U.S. government's National Institutes of Health. National Heart Lung and Blood Institute A division of the government-run National Institutes of Health, NHLBI maintains a straightforward site with facts about CF. NHLBI Health Information Center P.O. Box 30105 Bethesda, MD 20824-0105 Phone: (301) 592-8573 [email protected] Other Names for Cystic Fibrosis Fibrocystic Disease of Pancreas Cystic Fibrosis CFTR-Related Disorders CF Mucoviscidosis
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