Section 410IAC3-3-7. Follow-up of positive results, recommendations

   (a) When the responsible health care provider is notified by telephone by the laboratory of an initial presumptive positive test result, the responsible health care provider shall obtain the department approved repeat blood specimen from the newborn or infant and submit it to the designated laboratory within forty-eight (48) hours. If the blood specimen cannot be obtained within forty-eight (48) hours, the responsible health care provider shall notify MCH/NBS by telephone. The telephone notification shall be noted in the responsible health care provider's records, specifying the date of notification, the person notified, and the information provided. MCH/NBS will notify the local health officer and provide the necessary follow-up to ensure that the repeat blood specimen is obtained.

  (b) It shall be the responsibility of the responsible health care provider or, if none, the local health officer to report the following immediately to the newborn or infant's parent:

(1) All abnormal results from the newborn screening test in order to recommend appropriate diagnostic and possible therapeutic procedures.

(2) Any diagnosis of a disorder in order to recommend appropriate therapeutic procedures and psychosocial support.

  (c) When the repeat blood specimen supports a presumptive diagnosis of a disorder, the laboratory shall notify MCH/NBS and the responsible health care provider or local health officer, as appropriate.

  (d) When the responsible health care provider is notified of a presumptive positive or abnormal newborn screening result for a newborn or infant in the neonatal intensive care unit (NICU), regardless of whether the specimen was an initial or routine repeat specimen, the responsible health care provider shall provide follow-up as outlined above.

  (e) The responsible health care provider retains responsibility for the newborn, infant, or child's case management as the primary health care provider and shall make arrangements for the necessary diagnosis, therapy, and genetic counseling about the clinical and etiologic nature of the disorder, the chance of recurrence in subsequent children and other family members, existing resources for comprehensive clinical management, and family emotional and financial support. These can be provided directly by the responsible health care provider or by referral to appropriate specialists.

  (f) The department shall advise the responsible health care provider of the available referrals and programs for further evaluation, genetic counseling, and management available to the patient and family. These shall include, but are not limited to, care by the following:

(1) A clinical biochemical geneticist for newborns, infants, or children with the following:

(A) Phenylketonuria.

(B) Galactosemia.

(C) Maple syrup urine disease.

(D) Homocystinuria.

(E) Other metabolic conditions included on the newborn screen.

(2) A pediatric hematologist for newborns, infants, or children with a clinically significant hemoglobinopathy.

(3) A pediatric pulmonologist for newborns, infants, or children with cystic fibrosis.

(4) A pediatric endocrinologist for newborns, infants, or children with hypothyroidism or congenital adrenal hyperplasia.

(5) An audiologist, otolaryngologist, or other specialist for newborns, infants, or children with hearing loss.

In the case of newborns, infants, or children identified as carriers of an inherited hemoglobin abnormality (individuals with trait), the department shall recommend further evaluation of parents and appropriate counseling.

  (g) All physicians and audiologists making an initial diagnosis of a treatable disorder for which testing is required under  IC 16-41-17 shall report such diagnosis and the information necessary for follow-up to the department. The reporting is mandatory for physicians and audiologists making the initial diagnosis and should be reported in the format and media approved by the department. Physicians and audiologists caring for Indiana newborns, infants, or children who have been diagnosed outside the state of Indiana with a disorder for which testing is required under  IC 16-41-17 shall report in a similar manner.

  (h) The department shall maintain the following:

(1) A tracking system for follow-up of newborn screening results.

(2) A confidential registry of every newborn or infant born for whom the diagnosis of:

(A) phenylketonuria;

(B) hypothyroidism;

(C) galactosemia;

(D) maple syrup urine disease;

(E) homocystinuria;

(F) hemoglobinopathy;

(G) cystic fibrosis;

(H) hearing loss; or

(I) another metabolic or endocrine condition;

has been confirmed.

These records shall be utilized only for the purpose of service delivery and program administration and shall be managed in accordance with 410 IAC 21-3.

  (i) The department shall develop and maintain a statewide network of genetic evaluation and counseling services. Regional genetic services centers and outreach services from these centers shall serve as local evaluation and counseling resources for the follow-up program described in this section. (Indiana State Department of Health; 410 IAC 3-3-7; filed Nov 7, 1986, 3:30 p.m.: 10 IR 419; filed Feb 25, 1988, 4:30 p.m.: 11 IR 2579; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA)